Chemical: Drug
clozapine
last updated 08/10/2011
1. Annotation of DPWG Guideline for clozapine and CYP2D6
Summary
There are currently no dosing recommendations for clozapine based on CYP2D6 genotypes.
Annotation
The Royal Dutch Pharmacists Association - Pharmacogenetics Working Group has evaluated therapeutic dose recommendations for clozapine based on CYP2D6 genotypes [Article:21412232]. They conclude that there are no recommendations at this time.
| Phenotype (Genotype) | Therapeutic Dose Recommendation | Level of Evidence | Clinical Relevance |
|---|---|---|---|
| PM (two inactive (*3-*8, *11-*16, *19-*21, *38, *40, *42) alleles) | No recommendations. | Published controlled studies of good quality* relating to phenotyped and/or genotyped patients or healthy volunteers, and having relevant pharmacokinetic or clinical endpoints. | Clinical effect (not statistically significant difference). |
| IM (two decreased-activity (*9, *10, *17, *29, *36, *41) alleles or carrying one active (*1, *2, *33, *35) and one inactive (*3-*8, *11-*16, *19-*21, *38, *40, *42) allele, or carrying one decreased-activity (*9, *10, *17, *29, *36, *41) allele and one inactive (*3-*8, *11-*16, *19-*21, *38, *40, *42) allele) | No recommendations. | Published controlled studies of good quality* relating to phenotyped and/or genotyped patients or healthy volunteers, and having relevant pharmacokinetic or clinical endpoints. | Clinical effect (not statistically significant difference). |
| UM (a gene duplication in absence of inactive (*3-*8, *11-*16, *19-*21, *38, *40, *42) or decreased-activity (*9, *10, *17, *29, *36, *41) alleles) | No recommendations. | Published controlled studies of good quality* relating to phenotyped and/or genotyped patients or healthy volunteers, and having relevant pharmacokinetic or clinical endpoints. | Clinical effect (not statistically significant difference). |
- *See Methods or [Article:18253145] for definition of "good quality."
- Please see attached PDF for detailed information about the evaluated studies: Clozapine CYP2D6
last updated 10/25/2013
1. Annotation of FDA Label for clozapine and CYP2D6
Actionable PGx
Summary
Clozapine is a substrate of CYP1A2, CYP3A4, and CYP2D6. The drug label notes to use caution when administering it concomitantly with drugs that are inducers or inhibitors of these enzymes. Additionally, it may be necessary to reduce the clozapine dose in patients with significant renal or hepatic impairment, or in CYP2D6 poor metabolizers.
Annotation
Clozapine is an atypical antipsychotic drug. It is approved for the treatment of severely ill patients with schizophrenia who fail to show an acceptable response to standard antipsychotic drug treatment. Clozapine is a substrate for many CYP450 isozymes, in particular 1A2, 2D6, and 3A4.
Excerpts from the Clozapine drug label:
Dose reduction may be necessary in patients who are CYP2D6 poor metabolizers. Clozapine concentrations may be increased in these patients, because clozapine is almost completely metabolized and then excreted.
A subset (3%–10%) of the population has reduced activity of CYP2D6 (CYP2D6 poor metabolizers). These individuals may develop higher than expected plasma concentrations of clozapine when given usual doses.
Concomitant use of CLOZARIL with other drugs metabolized by CYP2D6 can increase levels of these CYPD26 substrates. Use caution when coadministering CLOZARIL with other drugs that are metabolized by CYP2D6. It may be necessary to use lower doses of such drugs than usually prescribed. Such drugs include specific antidepressants, phenothiazines, carbamazepine, and Type 1C antiarrhythmics (e.g., propafenone, flecainide, and encainide).
For the complete drug label text with sections containing pharmacogenetic information highlighted, see the Clozapine drug label.
*Disclaimer: The contents of this page have not been endorsed by the FDA and are the sole responsibility of PharmGKB.
Genes and/or phenotypes found in this label
-
Agranulocytosis
- Indications & usage section, Contraindications section, Warnings section, Adverse reactions section, Precautions section
- source: PHONT
-
Bradycardia
- Dosage & administration section, Adverse reactions section, Warnings and precautions section
- source: U.S. Food and Drug Administration
-
Hyperglycemia
- Dosage & administration section, Adverse reactions section, Warnings and precautions section
- source: U.S. Food and Drug Administration
-
Myocarditis
- Dosage & administration section, Adverse reactions section, Warnings and precautions section
- source: U.S. Food and Drug Administration
-
Psychotic Disorders
- Indications & usage section, Warnings section, Adverse reactions section
- source: PHONT
-
Schizophrenia
- Indications & usage section, Warnings section, Adverse reactions section
- source: PHONT
-
Seizures
- Contraindications section, Warnings section, Adverse reactions section, Precautions section
- source: PHONT
-
tardive dyskinesia
- Warnings section, Adverse reactions section, Precautions section
- source: PHONT
-
Weight gain
- Adverse reactions section
- source: PHONT
-
CYP1A2
- metabolism/PK, Drug interactions section, Pharmacokinetics section
- source: U.S. Food and Drug Administration
-
CYP2D6
- metabolism/PK, Drug interactions section, Pharmacokinetics section, Use in specific populations section
- source: U.S. Food and Drug Administration
-
CYP3A4
- metabolism/PK, Drug interactions section, Pharmacokinetics section
- source: U.S. Food and Drug Administration
-
DRD2
- other, Clinical pharmacology section
- source: U.S. Food and Drug Administration
-
HTR2A
- other, Clinical pharmacology section
- source: U.S. Food and Drug Administration
PharmGKB contains no Clinical Variants that meet the highest level of criteria.
To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the page.
Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.
The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.
? = Mouse-over for quick help
The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.
The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page.
Links in the "Gene" column lead to PharmGKB Gene Pages.
List of all variant annotations for clozapine
| Gene ? |
Variant?
(147) |
Alternate Names ? | Chemicals ? |
Alleles
?
(+ chr strand) |
Function ? |
Amino Acid?
Translation |
|
|---|---|---|---|---|---|---|---|
CA
VA
|
CYP1A2 | *1A | N/A | N/A | N/A | ||
|
CA
VA
|
CYP1A2 | *1F | N/A | N/A | N/A | ||
|
VIP
VA
|
CYP2D6 | *1 | N/A | N/A | N/A | ||
|
VIP
|
CYP2D6 | *2 | N/A | N/A | N/A | ||
|
VIP
VA
|
CYP2D6 | *3 | N/A | N/A | N/A | ||
|
VIP
VA
|
CYP2D6 | *4 | N/A | N/A | N/A | ||
|
VA
|
CYP2D6 | *5 | N/A | N/A | N/A | ||
|
VIP
VA
|
CYP2D6 | *6 | N/A | N/A | N/A | ||
|
VIP
|
CYP2D6 | *9 | N/A | N/A | N/A | ||
|
VIP
VA
|
CYP2D6 | *10 | N/A | N/A | N/A | ||
|
VIP
|
CYP2D6 | *17 | N/A | N/A | N/A | ||
|
VIP
|
CYP2D6 | *29 | N/A | N/A | N/A | ||
|
VIP
VA
|
CYP2D6 | *41 | N/A | N/A | N/A | ||
|
CA
VA
|
GSTM1 | non-null | N/A | N/A | N/A | ||
|
CA
VA
|
GSTM1 | null | N/A | N/A | N/A | ||
|
CA
VA
|
GSTT1 | non-null | N/A | N/A | N/A | ||
|
CA
VA
|
GSTT1 | null | N/A | N/A | N/A | ||
|
VA
|
HLA-B | *38:01:01 | N/A | N/A | N/A | ||
|
VA
|
HLA-B | *59:01:01:01 | N/A | N/A | N/A | ||
|
VA
|
HLA-C | *07:01:01 | N/A | N/A | N/A | ||
|
VA
|
HLA-DPB1 | *04:01:01:01 | N/A | N/A | N/A | ||
|
VA
|
HLA-DQB1 | *02:01:01 | N/A | N/A | N/A | ||
|
VA
|
HLA-DQB1 | *03:01:01:01 | N/A | N/A | N/A | ||
|
VA
|
HLA-DQB1 | *05:02:01 | N/A | N/A | N/A | ||
|
VA
|
HLA-DRB1 | *01:01:01 | N/A | N/A | N/A | ||
|
VA
|
HLA-DRB1 | *04:01:01 | N/A | N/A | N/A | ||
|
CA
VA
|
HLA-DRB3 | *02:02:01:01 | N/A | N/A | N/A | ||
|
VA
|
HLA-DRB5 | *02:02 | N/A | N/A | N/A | ||
|
VA
|
HTR2C | 2--1--1 | N/A | N/A | N/A | ||
|
VA
|
SLC6A4 | HTTLPR short form (S allele) | N/A | N/A | N/A | ||
|
VA
|
SLC6A4 | L allele-rs25531C | N/A | N/A | N/A | ||
|
VA
|
SLC6A4 | L allele-rs25531T | N/A | N/A | N/A | ||
| rs10193895 | NC_000002.11:g.106269612A>G, NC_000002.12:g.105653155A>G, rs59708627 |
A > G
|
SNP | ||||
| rs10248420 | NC_000007.13:g.87164986A>G, NC_000007.14:g.87535670A>G, NG_011513.1:g.182579T>C, NM_000927.4:c.2481+788T>C, rs56939197 |
A > G
|
SNP | ||||
| rs1045642 | NC_000007.13:g.87138645A>G, NC_000007.14:g.87509329A>G, NG_011513.1:g.208920T>C, NM_000927.4:c.3435T>C, NP_000918.2:p.Ile1145=, rs10239679, rs11568726, rs117328163, rs17210003, rs2229108, rs386513066, rs60023214, rs9690664 |
A > G
|
SNP |
I1145I
|
|||
| rs10465180 | NC_000009.11:g.87392582C>T, NC_000009.12:g.84777667C>T, NG_012201.2:g.114117C>T, NM_001007097.2:c.1396+25582C>T, NM_001018064.2:c.1396+25582C>T, NM_001018065.2:c.1396+25582C>T, NM_001018066.2:c.1396+25582C>T, NM_001291937.1:c.1357+25582C>T, NM_006180.4:c.1396+25582C>T, XM_005252001.1:c.1396+25582C>T, XM_005252002.1:c.1396+25582C>T, XM_005252003.1:c.1396+25582C>T, XM_005252004.1:c.1396+25582C>T, XM_005252005.1:c.1396+25582C>T, XM_005252006.1:c.1396+25582C>T, XM_005252006.2:c.1396+25582C>T, XM_005252007.1:c.1396+25582C>T, XM_005252007.2:c.1396+25582C>T, XM_011518718.1:c.1396+25582C>T, XM_011518719.1:c.1396+25582C>T, XM_011518720.1:c.1396+25582C>T, rs58399202 |
C > T
|
SNP | ||||
| rs1049353 | NC_000006.11:g.88853635C>T, NC_000006.12:g.88143916C>T, NM_001160226.1:c.1359G>A, NM_001160258.1:c.1359G>A, NM_001160259.1:c.1359G>A, NM_016083.4:c.1359G>A, NM_033181.3:c.1260G>A, NP_001153698.1:p.Thr453=, NP_001153730.1:p.Thr453=, NP_001153731.1:p.Thr453=, NP_057167.2:p.Thr453=, NP_149421.2:p.Thr420=, XM_005248649.1:c.1359G>A, XM_005248650.1:c.1359G>A, XM_005248650.3:c.1359G>A, XM_005248651.1:c.1260G>A, XM_005248652.1:c.1176G>A, XM_006715330.2:c.1359G>A, XM_011535424.1:c.1359G>A, XM_011535425.1:c.1359G>A, XM_011535426.1:c.1359G>A, XM_011535427.1:c.1359G>A, XM_011535428.1:c.1359G>A, XP_005248706.1:p.Thr453=, XP_005248707.1:p.Thr453=, XP_005248708.1:p.Thr420=, XP_005248709.1:p.Thr392=, XP_006715393.1:p.Thr453=, XP_011533726.1:p.Thr453=, XP_011533727.1:p.Thr453=, XP_011533728.1:p.Thr453=, XP_011533729.1:p.Thr453=, XP_011533730.1:p.Thr453=, rs17264339, rs3173203, rs386513644, rs56973242 |
C > T
|
SNP |
T453T
|
|||
| rs1050450 | NC_000003.11:g.49394834G>A, NC_000003.12:g.49357401G>A, NG_012264.1:g.5958C>T, NM_000581.2:c.599C>T, NM_201397.1:c.*581C>T, NP_000572.2:p.Pro200Leu, rs11549656, rs61730124 |
G > A
|
SNP |
P200L
|
|||
| rs1062613 | NC_000011.10:g.113975284T>C, NC_000011.9:g.113846006T>C, NG_013058.1:g.5210T>C, NM_000869.5:c.-24T>C, NM_213621.3:c.-24T>C, NR_046363.1:n.210T>C, rs3203603, rs60150307 |
T > -
T > C
|
SNP | ||||
| rs1065852 | NC_000022.10:g.42526694G=, NC_000022.10:g.42526694G>A, NC_000022.11:g.42130692G=, NC_000022.11:g.42130692G>A, NG_008376.3:g.4300C=, NG_008376.3:g.4300C>T, NM_000106.5:c.100C=, NM_000106.5:c.100C>T, NM_001025161.2:c.100C=, NM_001025161.2:c.100C>T, NP_000097.3:p.Pro34=, NP_000097.3:p.Pro34Ser, NP_001020332.2:p.Pro34=, NP_001020332.2:p.Pro34Ser, NT_187682.1:g.53033G=, NT_187682.1:g.53033G>A, NW_004504305.1:g.53019A=, NW_004504305.1:g.53019A>G, NW_009646208.1:g.16258A=, NW_009646208.1:g.16258A>G, XM_005278353.1:c.100T=, XM_005278353.1:c.100T>C, XM_005278354.1:c.-1454C>T, XM_005278354.1:c.-1454T>C, XM_005278354.3:c.-1454C>T, XM_005278354.3:c.-1454T>C, XM_011529966.1:c.100C=, XM_011529966.1:c.100C>T, XM_011529967.1:c.100C=, XM_011529967.1:c.100C>T, XM_011529968.1:c.100C=, XM_011529968.1:c.100C>T, XM_011529969.1:c.37+605C>T, XM_011529969.1:c.37+605T>C, XM_011529970.1:c.100C=, XM_011529970.1:c.100C>T, XM_011529971.1:c.37+605C>T, XM_011529971.1:c.37+605T>C, XM_011529972.1:c.100C=, XM_011529972.1:c.100C>T, XM_011547541.1:c.-1454C>T, XM_011547541.1:c.-1454T>C, XM_011547750.1:c.37+605C>T, XM_011547750.1:c.37+605T>C, XM_011547751.1:c.-1114C>T, XM_011547751.1:c.-1114T>C, XM_011547756.1:c.42+469A>G, XM_011547756.1:c.42+469G>A, XM_011548819.1:c.-1454C>T, XM_011548819.1:c.-1454T>C, XP_005278410.1:p.Ser34=, XP_005278410.1:p.Ser34Pro, XP_011528268.1:p.Pro34=, XP_011528268.1:p.Pro34Ser, XP_011528269.1:p.Pro34=, XP_011528269.1:p.Pro34Ser, XP_011528270.1:p.Pro34=, XP_011528270.1:p.Pro34Ser, XP_011528272.1:p.Pro34=, XP_011528272.1:p.Pro34Ser, XP_011528274.1:p.Pro34=, XP_011528274.1:p.Pro34Ser, XR_430455.2:n.328+4A>G, XR_430455.2:n.328+4G>A, XR_952536.1:n.-1751A>G, XR_952536.1:n.-1751G>A, XR_952537.1:n.-1751A>G, XR_952537.1:n.-1751G>A, XR_952538.1:n.-1751A>G, XR_952538.1:n.-1751G>A, XR_952539.1:n.-1462A>G, XR_952539.1:n.-1462G>A, XR_952745.1:n.1257C=, XR_952745.1:n.1257C>T, rs117813846, rs58862176 |
G > A
|
SNP |
P34S
|
|||
| rs1072388 | NC_000012.11:g.13938776G>A, NC_000012.12:g.13785842G>A, NG_031854.1:g.199247C>T, NM_000834.3:c.412-31927C>T, XM_011520628.1:c.412-31927C>T, XM_011520629.1:c.412-31927C>T, XM_011520630.1:c.412-31927C>T, rs17821324 |
G > A
|
SNP | ||||
| rs1079598 | NC_000011.10:g.113425552A>G, NC_000011.9:g.113296274A>G, NG_008841.1:g.54728T>C, NM_000795.3:c.-31-870T>C, NM_016574.3:c.-31-870T>C, XM_005271425.1:c.-31-870T>C, XM_005271426.1:c.-901T>C, rs4134628, rs4986924, rs61553796 |
A > G
|
SNP | ||||
| rs11146020 | NC_000009.11:g.140033084G>C, NC_000009.12:g.137138632G>C, NG_011507.1:g.4476G>C, NM_000832.6:c.-855G>C, NM_001185090.1:c.-855G>C, NM_001185091.1:c.-855G>C, NM_007327.3:c.-855G>C, NM_021569.3:c.-855G>C, XM_005266071.1:c.-855G>C, XM_005266071.2:c.-855G>C, XM_005266072.1:c.-855G>C, XM_005266072.2:c.-855G>C, XM_005266073.1:c.-855G>C, XM_005266073.3:c.-855G>C, XM_011518583.1:c.-855G>C |
G > C
|
SNP | ||||
| rs1128397 | NC_000008.10:g.21550800A>T, NC_000008.11:g.21693288A>T, NG_029215.1:g.100547T>A, NM_001165038.1:c.1070T>A, NM_001165039.1:c.986T>A, NM_001495.4:c.1385T>A, NP_001158510.1:p.Leu357Gln, NP_001158511.1:p.Leu329Gln, NP_001486.4:p.Leu462Gln, XM_005273472.1:c.1427T>A, XM_005273473.1:c.1385T>A, XM_005273474.1:c.1112T>A, XM_005273475.1:c.1028T>A, XM_005273475.2:c.1028T>A, XM_006716327.2:c.1385T>A, XM_011544484.1:c.1385T>A, XM_011544485.1:c.1070T>A, XP_005273529.1:p.Leu476Gln, XP_005273530.1:p.Leu462Gln, XP_005273531.1:p.Leu371Gln, XP_005273532.1:p.Leu343Gln, XP_006716390.1:p.Leu462Gln, XP_011542786.1:p.Leu462Gln, XP_011542787.1:p.Leu357Gln, rs2229905, rs3087672, rs3185307, rs52833017 |
A > T
|
SNP |
L357Q
|
|||
| rs1135840 | NC_000022.10:g.42522613G=, NC_000022.10:g.42522613G>C, NC_000022.11:g.42126611C=, NC_000022.11:g.42126611C>G, NG_008376.3:g.8381G=, NG_008376.3:g.8381G>C, NM_000106.5:c.1457G=, NM_000106.5:c.1457G>C, NM_001025161.2:c.1304G=, NM_001025161.2:c.1304G>C, NP_000097.3:p.Ser486=, NP_000097.3:p.Ser486Thr, NP_001020332.2:p.Ser435=, NP_001020332.2:p.Ser435Thr, NT_187682.1:g.48952G=, NT_187682.1:g.48952G>C, NW_004504305.1:g.48938G=, NW_004504305.1:g.48938G>C, NW_009646208.1:g.12177G=, NW_009646208.1:g.12177G>C, XM_005278353.1:c.1313C=, XM_005278353.1:c.1313C>G, XM_005278354.1:c.1157C=, XM_005278354.1:c.1157C>G, XM_005278354.3:c.1157C=, XM_005278354.3:c.1157C>G, XM_011529966.1:c.1452+5C>G, XM_011529966.1:c.1452+5G>C, XM_011529967.1:c.1452+5C>G, XM_011529967.1:c.1452+5G>C, XM_011529968.1:c.1452+5C>G, XM_011529968.1:c.1452+5G>C, XM_011529969.1:c.1308+5C>G, XM_011529969.1:c.1308+5G>C, XM_011529970.1:c.1299+5C>G, XM_011529970.1:c.1299+5G>C, XM_011529971.1:c.1313G=, XM_011529971.1:c.1313G>C, XM_011547750.1:c.1313C=, XM_011547750.1:c.1313C>G, XM_011547751.1:c.1241C=, XM_011547751.1:c.1241C>G, XP_005278410.1:p.Thr438=, XP_005278410.1:p.Thr438Ser, XP_005278411.1:p.Thr386=, XP_005278411.1:p.Thr386Ser, XP_011528273.1:p.Ser438=, XP_011528273.1:p.Ser438Thr, XP_011546052.1:p.Thr438=, XP_011546052.1:p.Thr438Ser, XP_011546053.1:p.Thr414=, XP_011546053.1:p.Thr414Ser, XR_952745.1:n.2472C=, XR_952745.1:n.2472C>G, rs57862116 |
G > C
|
SNP |
S486T
|
|||
| rs1150226 | NC_000011.10:g.113974819A>G, NC_000011.9:g.113845541A>G, NG_013058.1:g.4745A>G, NM_000869.5:c.-489A>G, NM_213621.3:c.-489A>G, NR_046363.1:n.-256A>G, rs1456890, rs1672729, rs386518532, rs56774067 |
A > G
|
SNP | ||||
| rs11872992 | NC_000018.10:g.60373354G>A, NC_000018.9:g.58040587G>A, NG_016441.1:g.4415C>T, NM_005912.2:c.-1005C>T, rs60275201 |
G > A
|
SNP | ||||
| rs12970134 | NC_000018.10:g.60217517G>A, NC_000018.9:g.57884750G>A, rs60401193 |
G > A
|
SNP | ||||
| rs13064530 | NC_000003.11:g.11265914G>A, NC_000003.12:g.11224228G>A, NM_001098211.1:c.-1867G>A, NM_001098212.1:c.-35-34775G>A, NM_001098213.1:c.-35-34775G>A, XM_011533652.1:c.-2025G>A, XM_011533653.1:c.-35-34775G>A, XM_011533654.1:c.-1817G>A, rs61238856 |
G > A
|
SNP | ||||
| rs13250096 | NC_000008.10:g.21576409C>G, NC_000008.11:g.21718897C>G, NG_029215.1:g.74938G>C, NM_001165038.1:c.480-12856G>C, NM_001165039.1:c.396-12856G>C, NM_001495.4:c.795-12856G>C, XM_005273472.1:c.837-12856G>C, XM_005273473.1:c.795-12856G>C, XM_005273474.1:c.522-12856G>C, XM_005273475.1:c.438-12856G>C, XM_005273475.2:c.438-12856G>C, XM_006716327.2:c.795-12856G>C, XM_011544484.1:c.795-12856G>C, XM_011544485.1:c.480-12856G>C |
C > G
|
SNP | ||||
| rs13429709 | NC_000002.11:g.162997960T>C, NC_000002.12:g.162141450T>C, NR_110255.1:n.93-20320T>C, XR_241339.1:n.93-20320T>C |
T > C
|
SNP | ||||
| rs1360780 | NC_000006.11:g.35607571T>C, NC_000006.12:g.35639794T>C, NG_012645.2:g.93790A>G, NM_001145775.2:c.106-2636A>G, NM_001145776.1:c.106-2636A>G, NM_001145777.1:c.106-2636A>G, NM_004117.3:c.106-2636A>G, XR_926743.1:n.287+5974T>C, rs58091271 |
T > C
|
SNP | ||||
| rs1414334 | NC_000023.10:g.114138144C>G, NC_000023.11:g.114903581C>G, NG_012082.2:g.324497C>G, NM_000868.3:c.551-3008C>G, NM_001256760.2:c.551-3008C>G, NM_001256761.2:c.456-3008C>G, NW_004070891.1:g.572383C>G, rs59611151 |
C > G
|
SNP | ||||
| rs1415744 | NC_000006.11:g.146022531T>C, NC_000006.12:g.145701395T>C, NG_012832.1:g.39461A>G, NM_001018041.1:c.302-15099A>G, NM_005670.3:c.302-15099A>G, XM_005267139.1:c.302-15099A>G, XM_006715564.2:c.302-15099A>G, XM_011536113.1:c.302-15099A>G, XM_011536114.1:c.302-15099A>G, XM_011536115.1:c.302-15099A>G, rs56685907 |
T > C
|
SNP | ||||
| rs149104283 |
C > T
|
SNP | |||||
| rs16947 | NC_000022.10:g.42523943A=, NC_000022.10:g.42523943A>G, NC_000022.11:g.42127941G=, NC_000022.11:g.42127941G>A, NG_008376.3:g.7051C=, NG_008376.3:g.7051C>T, NM_000106.5:c.886C=, NM_000106.5:c.886C>T, NM_001025161.2:c.733C=, NM_001025161.2:c.733C>T, NP_000097.3:p.Arg296=, NP_000097.3:p.Arg296Cys, NP_001020332.2:p.Arg245=, NP_001020332.2:p.Arg245Cys, NT_187682.1:g.50282A=, NT_187682.1:g.50282A>G, NW_004504305.1:g.50268G=, NW_004504305.1:g.50268G>A, NW_009646208.1:g.13507G=, NW_009646208.1:g.13507G>A, XM_005278353.1:c.742C=, XM_005278353.1:c.742C>T, XM_005278354.1:c.586C=, XM_005278354.1:c.586C>T, XM_005278354.3:c.586C=, XM_005278354.3:c.586C>T, XM_011529966.1:c.886C=, XM_011529966.1:c.886C>T, XM_011529967.1:c.886C=, XM_011529967.1:c.886C>T, XM_011529968.1:c.886C=, XM_011529968.1:c.886C>T, XM_011529969.1:c.742C=, XM_011529969.1:c.742C>T, XM_011529970.1:c.733C=, XM_011529970.1:c.733C>T, XM_011529971.1:c.742C=, XM_011529971.1:c.742C>T, XM_011529972.1:c.843+233C>T, XM_011529972.1:c.843+233T>C, XM_011547541.1:c.586C=, XM_011547541.1:c.586C>T, XM_011547750.1:c.742T=, XM_011547750.1:c.742T>C, XM_011547751.1:c.670T=, XM_011547751.1:c.670T>C, XM_011547756.1:c.-2094A>G, XM_011547756.1:c.-2094G>A, XM_011548819.1:c.586C=, XM_011548819.1:c.586C>T, XP_005278410.1:p.Arg248=, XP_005278410.1:p.Arg248Cys, XP_005278411.1:p.Arg196=, XP_005278411.1:p.Arg196Cys, XP_011528268.1:p.Arg296=, XP_011528268.1:p.Arg296Cys, XP_011528269.1:p.Arg296=, XP_011528269.1:p.Arg296Cys, XP_011528270.1:p.Arg296=, XP_011528270.1:p.Arg296Cys, XP_011528271.1:p.Arg248=, XP_011528271.1:p.Arg248Cys, XP_011528272.1:p.Arg245=, XP_011528272.1:p.Arg245Cys, XP_011528273.1:p.Arg248=, XP_011528273.1:p.Arg248Cys, XP_011545843.1:p.Arg196=, XP_011545843.1:p.Arg196Cys, XP_011546052.1:p.Cys248=, XP_011546052.1:p.Cys248Arg, XP_011546053.1:p.Cys224=, XP_011546053.1:p.Cys224Arg, XP_011547121.1:p.Arg196=, XP_011547121.1:p.Arg196Cys, XR_430455.2:n.-1930A>G, XR_430455.2:n.-1930G>A, XR_952745.1:n.2000+233C>T, XR_952745.1:n.2000+233T>C, rs117039205, rs57836231 |
A > G
|
SNP |
R296C
|
|||
| rs1695 | NC_000011.10:g.67585218A>G, NC_000011.9:g.67352689A>G, NG_012075.1:g.6624A>G, NM_000852.3:c.313A>G, NP_000843.1:p.Ile105Val, XM_005273958.1:c.313A>G, XP_005274015.1:p.Ile105Val, rs1138257, rs11553891, rs17353321, rs17856342, rs2230827, rs4609, rs56971933, rs947894 |
A > G
|
SNP |
I105V
|
|||
| rs17782313 | NC_000018.10:g.60183864T>C, NC_000018.9:g.57851097T>C, rs59090733, rs59781239 |
T > C
|
SNP | ||||
| rs1778929 | NC_000009.11:g.87322540T>C, NC_000009.12:g.84707625T>C, NG_012201.2:g.44075T>C, NM_001007097.2:c.360-219T>C, NM_001018064.2:c.360-219T>C, NM_001018065.2:c.360-219T>C, NM_001018066.2:c.360-219T>C, NM_001291937.1:c.360-219T>C, NM_006180.4:c.360-219T>C, XM_005252001.1:c.360-219T>C, XM_005252002.1:c.360-219T>C, XM_005252003.1:c.360-219T>C, XM_005252004.1:c.360-219T>C, XM_005252005.1:c.360-219T>C, XM_005252006.1:c.360-219T>C, XM_005252006.2:c.360-219T>C, XM_005252007.1:c.360-219T>C, XM_005252007.2:c.360-219T>C, XM_011518718.1:c.360-219T>C, XM_011518719.1:c.360-219T>C, XM_011518720.1:c.360-219T>C, rs17638282, rs74305438 |
T > C
|
SNP | ||||
| rs1799732 | NC_000011.10:g.113475529_113475530insG, NC_000011.9:g.113346251_113346252insG, NG_008841.1:g.4750_4751insC, NM_000795.3:c.-486_-485insC, NM_016574.3:c.-486_-485insC, XM_005271425.1:c.-32+128_-32+129insC, XR_948023.1:n.528_529insC, rs143987432, rs144707848, rs72523179, rs72566141 |
- > G
|
indel | ||||
| rs1800497 | NC_000011.10:g.113400106G>A, NC_000011.9:g.113270828G>A, NG_012976.1:g.17316G>A, NM_178510.1:c.2137G>A, NP_848605.1:p.Glu713Lys, XM_011542736.1:c.2170G>A, XM_011542737.1:c.2140G>A, XM_011542738.1:c.1948G>A, XP_011541038.1:p.Glu724Lys, XP_011541039.1:p.Glu714Lys, XP_011541040.1:p.Glu650Lys, rs117686243, rs4134623, rs4245144, rs59538675 |
G > A
|
SNP |
E713K
|
|||
| rs1800566 | NC_000016.10:g.69711242G>A, NC_000016.9:g.69745145G>A, NG_011504.1:g.20389C>T, NM_000903.2:c.559C>T, NM_001025433.1:c.457C>T, NM_001025434.1:c.445C>T, NM_001286137.1:c.343C>T, NP_000894.1:p.Pro187Ser, NP_001020604.1:p.Pro153Ser, NP_001020605.1:p.Pro149Ser, NP_001273066.1:p.Pro115Ser, XM_005255830.1:c.343C>T, XP_005255887.1:p.Pro115Ser, rs4134727, rs4149351, rs57135274 |
G > A
|
SNP |
P187S
|
|||
| rs1800629 | NC_000006.11:g.31543031G=, NC_000006.11:g.31543031G>A, NC_000006.12:g.31575254G=, NC_000006.12:g.31575254G>A, NG_007462.1:g.4682G=, NG_007462.1:g.4682G>A, NG_012010.1:g.8156G=, NG_012010.1:g.8156G>A, NM_000594.3:c.-488A>G, NM_000594.3:c.-488G>A, NT_113891.2:g.3052647A=, NT_113891.2:g.3052647A>G, NT_113891.3:g.3052541A=, NT_113891.3:g.3052541A>G, NT_167245.1:g.2828572G=, NT_167245.1:g.2828572G>A, NT_167245.2:g.2822987G=, NT_167245.2:g.2822987G>A, NT_167246.1:g.2885915G=, NT_167246.1:g.2885915G>A, NT_167246.2:g.2880295G=, NT_167246.2:g.2880295G>A, NT_167247.1:g.2922737G=, NT_167247.1:g.2922737G>A, NT_167247.2:g.2917152G=, NT_167247.2:g.2917152G>A, NT_167248.1:g.2836669G=, NT_167248.1:g.2836669G>A, NT_167248.2:g.2831073G=, NT_167248.2:g.2831073G>A, NT_167249.1:g.2873832G=, NT_167249.1:g.2873832G>A, NT_167249.2:g.2874534G=, NT_167249.2:g.2874534G>A, rs116610137, rs117441802, rs148958203, rs3091256, rs36205298, rs4134777, rs59729336 |
G > A
|
SNP | ||||
| rs1801131 | NC_000001.10:g.11854476T>G, NC_000001.11:g.11794419T>G, NG_013351.1:g.16685A>C, NM_005957.4:c.1286A>C, NP_005948.3:p.Glu429Ala, XM_005263458.1:c.1409A>C, XM_005263458.2:c.1409A>C, XM_005263459.1:c.1355A>C, XM_005263460.1:c.1286A>C, XM_005263460.3:c.1286A>C, XM_005263461.1:c.1286A>C, XM_005263461.3:c.1286A>C, XM_005263462.1:c.1286A>C, XM_005263462.3:c.1286A>C, XM_005263463.1:c.1040A>C, XM_005263463.2:c.1040A>C, XM_011541495.1:c.1406A>C, XM_011541496.1:c.1409A>C, XP_005263515.1:p.Glu470Ala, XP_005263516.1:p.Glu452Ala, XP_005263517.1:p.Glu429Ala, XP_005263518.1:p.Glu429Ala, XP_005263519.1:p.Glu429Ala, XP_005263520.1:p.Glu347Ala, XP_011539797.1:p.Glu469Ala, XP_011539798.1:p.Glu470Ala, rs17367365, rs17857426, rs4134712 |
T > G
|
SNP |
E429A
|
|||
| rs2032582 | NC_000007.13:g.87160618A>C, NC_000007.13:g.87160618A>T, NC_000007.14:g.87531302A>C, NC_000007.14:g.87531302A>T, NG_011513.1:g.186947T>A, NG_011513.1:g.186947T>G, NM_000927.4:c.2677T>A, NM_000927.4:c.2677T>G, NP_000918.2:p.Ser893Ala, NP_000918.2:p.Ser893Thr, rs10228331, rs2229106, rs386553610, rs57135550, rs9641018 |
A > C
A > T
|
SNP |
S893A
|
|||
| rs2069514 | NC_000015.10:g.74745879G>A, NC_000015.9:g.75038220G>A, NG_008431.1:g.28338G>A |
G > A
|
SNP | ||||
| rs2228622 | NC_000009.11:g.4564432G>A, NC_000009.12:g.4564432G>A, NG_017044.1:g.79006G>A, NM_004170.5:c.414G>A, NP_004161.4:p.Thr138=, XM_011518007.1:c.483G>A, XM_011518008.1:c.423G>A, XM_011518009.1:c.354G>A, XM_011518010.1:c.273G>A, XP_011516309.1:p.Thr161=, XP_011516310.1:p.Thr141=, XP_011516311.1:p.Thr118=, XP_011516312.1:p.Thr91=, XR_242510.1:n.1480-10044C>T, rs17768809, rs2273899, rs386561697, rs7856209 |
G > A
|
SNP |
T138T
|
|||
| rs2268639 | NC_000006.11:g.39050622T>A, NC_000006.12:g.39082846T>A, NM_002062.3:c.1224+2107T>A, XR_241888.1:n.1284+2107T>A, XR_241889.1:n.1284+2107T>A, XR_926153.1:n.1284+2107T>A, XR_926154.1:n.1284+2107T>A, XR_926155.1:n.1284+2107T>A, rs59254920 |
T > A
|
SNP | ||||
| rs2276302 | NC_000011.10:g.113979418G>A, NC_000011.9:g.113850140G>A, NG_013058.1:g.9344G>A, NM_000869.5:c.282+141G>A, NM_001161772.2:c.219+141G>A, NM_213621.3:c.282+141G>A, NR_046363.1:n.515+141G>A, rs57028479 |
G > A
|
SNP | ||||
| rs2277984 |
C > T
|
SNP | |||||
| rs2333227 |
C > T
|
SNP | |||||
| rs2514218 | NC_000011.10:g.113522272C>T, NC_000011.9:g.113392994C>T, rs17530767, rs386568569, rs57701787 |
C > T
|
SNP | ||||
| rs2535629 |
G > A
|
SNP | |||||
| rs25531 | NC_000017.10:g.28564346T>C, NC_000017.11:g.30237328T>C, NG_011747.2:g.3609A>G, NM_001045.5:c.-1936A>G, XM_005258025.1:c.-1810A>G, XR_934652.1:n.-225T>C, XR_934653.1:n.-225T>C, XR_934654.1:n.165+258T>C, XR_934655.1:n.-225T>C, rs2020931, rs35593448 |
T > C
|
SNP | ||||
| rs265976 | NC_000005.10:g.175435417G>T, NC_000005.9:g.174862420G>T, rs1310291, rs56801037 |
G > T
|
SNP | ||||
| rs265981 | NC_000005.10:g.175443899A>G, NC_000005.9:g.174870902A>G, NG_011802.1:g.5262T>C, NM_000794.3:c.-684T>C, rs1310295, rs888670 |
A > G
|
SNP | ||||
| rs2740204 | NC_000020.10:g.3062467G>T, NC_000020.11:g.3081821G>T, NG_008663.1:g.7904C>A, rs61543040 |
G > T
|
SNP | ||||
| rs28371706 | NC_000022.10:g.42525772G>A, NC_000022.11:g.42129770G>A, NG_008376.3:g.5222C>T, NM_000106.5:c.320C>T, NM_001025161.2:c.320C>T, NP_000097.3:p.Thr107Ile, NP_001020332.2:p.Thr107Ile, NT_187682.1:g.52111G>A, NW_004504305.1:g.52097G>A, NW_009646208.1:g.15336G>A, XM_005278353.1:c.320C>T, XM_005278354.1:c.-532C>T, XM_005278354.3:c.-532C>T, XM_011529966.1:c.320C>T, XM_011529967.1:c.320C>T, XM_011529968.1:c.320C>T, XM_011529969.1:c.177C>T, XM_011529970.1:c.320C>T, XM_011529971.1:c.177C>T, XM_011529972.1:c.320C>T, XM_011547541.1:c.-532C>T, XM_011547750.1:c.177C>T, XM_011547751.1:c.-192C>T, XM_011547756.1:c.-265G>A, XM_011548819.1:c.-532C>T, XP_005278410.1:p.Thr107Ile, XP_011528268.1:p.Thr107Ile, XP_011528269.1:p.Thr107Ile, XP_011528270.1:p.Thr107Ile, XP_011528271.1:p.His59=, XP_011528272.1:p.Thr107Ile, XP_011528273.1:p.His59=, XP_011528274.1:p.Thr107Ile, XP_011546052.1:p.His59=, XR_430455.2:n.-101G>A, XR_952745.1:n.1477C>T, rs587777915, rs59604033 |
G > A
|
SNP |
T107I
|
|||
| rs28371725 | NC_000022.10:g.42523805C>T, NC_000022.11:g.42127803C>T, NG_008376.3:g.7189G>A, NM_000106.5:c.985+39G>A, NM_001025161.2:c.832+39G>A, NT_187682.1:g.50144C>T, NW_004504305.1:g.50130C>T, NW_009646208.1:g.13369C>T, XM_005278353.1:c.841+39G>A, XM_005278354.1:c.685+39G>A, XM_005278354.3:c.685+39G>A, XM_011529966.1:c.985+39G>A, XM_011529967.1:c.985+39G>A, XM_011529968.1:c.985+39G>A, XM_011529969.1:c.841+39G>A, XM_011529970.1:c.832+39G>A, XM_011529971.1:c.841+39G>A, XM_011529972.1:c.844-169G>A, XM_011547541.1:c.724G>A, XM_011547750.1:c.841+39G>A, XM_011547751.1:c.769+39G>A, XM_011548819.1:c.724G>A, XP_011545843.1:p.Glu242Lys, XP_011547121.1:p.Glu242Lys, XR_952745.1:n.2001-169G>A, rs57124011, rs587777916 |
C > T
|
SNP | ||||
| rs2975226 | NC_000005.10:g.1445501A>T, NC_000005.9:g.1445616A>T, NG_015885.1:g.4928T>A, NM_001044.4:c.-199T>A, NT_187547.1:g.64272T>A, rs59466722 |
A > T
|
SNP | ||||
| rs324420 | NC_000001.10:g.46870761C>A, NC_000001.11:g.46405089C>A, NG_012195.1:g.15823C>A, NM_001441.2:c.385C>A, NP_001432.2:p.Pro129Thr, XM_005270624.1:c.385C>A, XM_005270625.1:c.385C>A, XP_005270681.1:p.Pro129Thr, XP_005270682.1:p.Pro129Thr, XR_246250.1:n.463C>A, rs57947754 |
C > A
|
SNP |
P129T
|
|||
| rs35694136 | NC_000015.10:g.74747272delT, NC_000015.9:g.75039613delT, NG_008431.1:g.29731delT, NM_000761.4:c.-1635del, NM_000761.4:c.-1635delT, rs145540372, rs374281455, rs59598989 |
T > -
|
indel | ||||
| rs35742686 | NC_000022.10:g.42524244delT, NC_000022.11:g.42128242delT, NG_008376.3:g.6750delA, NM_000106.5:c.775delA, NM_001025161.2:c.622delA, NP_000097.3:p.Arg259Glyfs, NP_001020332.2:p.Arg208Glyfs, NT_187682.1:g.50583delT, NW_004504305.1:g.50569delT, NW_009646208.1:g.13808delT, XM_005278353.1:c.631delA, XM_005278354.1:c.475delA, XM_005278354.3:c.475delA, XM_011529966.1:c.775delA, XM_011529967.1:c.775delA, XM_011529968.1:c.775delA, XM_011529969.1:c.631delA, XM_011529970.1:c.622delA, XM_011529971.1:c.631delA, XM_011529972.1:c.775delA, XM_011547541.1:c.475delA, XM_011547750.1:c.631delA, XM_011547751.1:c.559delA, XM_011547756.1:c.-1793delT, XM_011548819.1:c.475delA, XP_005278410.1:p.Arg211Glyfs, XP_005278411.1:p.Arg159Glyfs, XP_011528268.1:p.Arg259Glyfs, XP_011528269.1:p.Arg259Glyfs, XP_011528270.1:p.Arg259Glyfs, XP_011528271.1:p.Arg211Glyfs, XP_011528272.1:p.Arg208Glyfs, XP_011528273.1:p.Arg211Glyfs, XP_011528274.1:p.Arg259Glyfs, XP_011545843.1:p.Arg159Glyfs, XP_011546052.1:p.Arg211Glyfs, XP_011546053.1:p.Arg187Glyfs, XP_011547121.1:p.Arg159Glyfs, XR_430455.2:n.-1629delT, XR_952745.1:n.1932delA, rs45593132, rs60790764 |
T > -
T > T
|
indel |
R259G
|
|||
| rs3780412 | NC_000009.11:g.4572480T>C, NC_000009.12:g.4572480T>C, NG_017044.1:g.87054T>C, NM_004170.5:c.767+92T>C, XM_011518007.1:c.836+92T>C, XM_011518008.1:c.776+92T>C, XM_011518009.1:c.707+92T>C, XM_011518010.1:c.626+92T>C, XR_242510.1:n.1480-18092A>G, rs58061521 |
T > C
|
SNP | ||||
| rs3780413 | NC_000009.11:g.4567353C>G, NC_000009.12:g.4567353C>G, NG_017044.1:g.81927C>G, NM_004170.5:c.484-316C>G, XM_011518007.1:c.553-316C>G, XM_011518008.1:c.493-316C>G, XM_011518009.1:c.424-316C>G, XM_011518010.1:c.343-316C>G, XR_242510.1:n.1480-12965G>C, rs13296335 |
C > G
|
SNP | ||||
| rs3813928 | NC_000023.10:g.113818282G>A, NC_000023.11:g.114583809G>A, NG_012082.2:g.4725G>A, NM_000868.3:c.-997G>A, NM_001256760.2:c.-1088G>A, NM_001256761.2:c.-997G>A, NW_004070891.1:g.252611G>A, rs17260544, rs56468477, rs58438880 |
G > A
|
SNP | ||||
| rs3813929 | NC_000023.10:g.113818520C>T, NC_000023.11:g.114584047C>T, NG_012082.2:g.4963C>T, NM_000868.3:c.-759C>T, NM_001256760.2:c.-850C>T, NM_001256761.2:c.-759C>T, NW_004070891.1:g.252849C>T, rs17326402 |
C > T
|
SNP | ||||
| rs3892097 | NC_000022.10:g.42524947C=, NC_000022.10:g.42524947C>T, NC_000022.11:g.42128945C=, NC_000022.11:g.42128945C>T, NG_008376.3:g.6047G=, NG_008376.3:g.6047G>A, NM_000106.5:c.506-1A>G, NM_000106.5:c.506-1G>A, NM_001025161.2:c.353-1A>G, NM_001025161.2:c.353-1G>A, NT_187682.1:g.51286C=, NT_187682.1:g.51286C>T, NW_004504305.1:g.51272T=, NW_004504305.1:g.51272T>C, NW_009646208.1:g.14511C=, NW_009646208.1:g.14511C>T, XM_005278353.1:c.363-2A>G, XM_005278353.1:c.363-2G>A, XM_005278354.1:c.207-2A>G, XM_005278354.1:c.207-2G>A, XM_005278354.3:c.207-2A>G, XM_005278354.3:c.207-2G>A, XM_011529966.1:c.506-1A>G, XM_011529966.1:c.506-1G>A, XM_011529967.1:c.506-1A>G, XM_011529967.1:c.506-1G>A, XM_011529968.1:c.506-1A>G, XM_011529968.1:c.506-1G>A, XM_011529969.1:c.363-2A>G, XM_011529969.1:c.363-2G>A, XM_011529970.1:c.353-1A>G, XM_011529970.1:c.353-1G>A, XM_011529971.1:c.363-2A>G, XM_011529971.1:c.363-2G>A, XM_011529972.1:c.506-1A>G, XM_011529972.1:c.506-1G>A, XM_011547541.1:c.207-2A>G, XM_011547541.1:c.207-2G>A, XM_011547750.1:c.363-2A>G, XM_011547750.1:c.363-2G>A, XM_011547751.1:c.290-1A>G, XM_011547751.1:c.290-1G>A, XM_011547756.1:c.-1090C>T, XM_011547756.1:c.-1090T>C, XM_011548819.1:c.207-2A>G, XM_011548819.1:c.207-2G>A, XR_430455.2:n.-926C>T, XR_430455.2:n.-926T>C, XR_952745.1:n.1663-1A>G, XR_952745.1:n.1663-1G>A, rs1800716, rs28371711, rs60082401, rs606231227 |
C > T
|
SNP | ||||
| rs4244285 | NC_000010.10:g.96541616G>A, NC_000010.11:g.94781859G>A, NG_008384.2:g.24154G>A, NM_000769.1:c.681G>A, NM_000769.2:c.681G>A, NP_000760.1:p.Pro227=, rs116940633, rs17879456, rs60361278 |
G > A
|
SNP |
P227P
|
|||
| rs4436578 | NC_000011.10:g.113436043C>T, NC_000011.9:g.113306765C>T, NG_008841.1:g.44237G>A, NM_000795.3:c.-31-11361G>A, NM_016574.3:c.-31-11361G>A, XM_005271425.1:c.-31-11361G>A, rs58376220 |
C > T
|
SNP | ||||
| rs4532 | NC_000005.10:g.175443147C>T, NC_000005.9:g.174870150C>T, NG_011802.1:g.6014G>A, NM_000794.3:c.-48G>A, rs1310294, rs265980, rs61505681 |
C > T
|
SNP | ||||
| rs4567028 | NC_000008.10:g.21580010G>A, NC_000008.11:g.21722498G>A, NG_029215.1:g.71337C>T, NM_001165038.1:c.480-16457C>T, NM_001165039.1:c.396-16457C>T, NM_001495.4:c.795-16457C>T, XM_005273472.1:c.837-16457C>T, XM_005273473.1:c.795-16457C>T, XM_005273474.1:c.522-16457C>T, XM_005273475.1:c.438-16457C>T, XM_005273475.2:c.438-16457C>T, XM_006716327.2:c.795-16457C>T, XM_011544484.1:c.795-16457C>T, XM_011544485.1:c.480-16457C>T, rs58465121 |
G > A
|
SNP | ||||
| rs4680 | NC_000022.10:g.19951271G>A, NC_000022.11:g.19963748G>A, NG_011526.1:g.27009G>A, NM_000754.3:c.472G>A, NM_001135161.1:c.472G>A, NM_001135162.1:c.472G>A, NM_007310.2:c.322G>A, NP_000745.1:p.Val158Met, NP_001128633.1:p.Val158Met, NP_001128634.1:p.Val158Met, NP_009294.1:p.Val108Met, NR_039918.1:n.-5G>A, XM_005261229.1:c.472G>A, XM_011529885.1:c.586G>A, XM_011529886.1:c.586G>A, XM_011529887.1:c.472G>A, XM_011529888.1:c.472G>A, XM_011529889.1:c.472G>A, XM_011529890.1:c.472G>A, XM_011529891.1:c.472G>A, XP_005261286.1:p.Val158Met, XP_011528187.1:p.Val196Met, XP_011528188.1:p.Val196Met, XP_011528189.1:p.Val158Met, XP_011528190.1:p.Val158Met, XP_011528191.1:p.Val158Met, XP_011528192.1:p.Val158Met, XP_011528193.1:p.Val158Met, rs1131157, rs11544671, rs165688, rs17295216, rs17349704, rs17818178, rs17849308, rs17850006, rs2070104, rs3177905, rs3190784, rs3747070, rs58002978 |
G > A
|
SNP |
V158M
|
|||
| rs4880 | NC_000006.11:g.160113872A>G, NC_000006.12:g.159692840A>G, NG_008729.1:g.5482T>C, NM_000636.2:c.47T>C, NM_001024465.1:c.47T>C, NM_001024466.1:c.47T>C, NP_000627.2:p.Val16Ala, NP_001019636.1:p.Val16Ala, NP_001019637.1:p.Val16Ala, rs1141717, rs11551083, rs116851270, rs17362379, rs17405198, rs17856520, rs1799725, rs3205539, rs386596107 |
A > G
|
SNP |
V16A
|
|||
| rs489693 | NC_000018.10:g.60215554C>A, NC_000018.9:g.57882787C>A, rs1673474 |
C > A
|
SNP | ||||
| rs4938013 | NC_000011.10:g.113393748A>C, NC_000011.9:g.113264470A>C, NG_012976.1:g.10958A>C, NM_178510.1:c.453A>C, NP_848605.1:p.Ile151=, XM_011542736.1:c.453A>C, XM_011542737.1:c.453A>C, XM_011542738.1:c.231A>C, XP_011541038.1:p.Ile151=, XP_011541039.1:p.Ile151=, XP_011541040.1:p.Ile77=, rs61344497 |
A > C
|
SNP |
I151I
|
|||
| rs5030655 | NC_000022.10:g.42525086delA, NC_000022.11:g.42129084delA, NG_008376.3:g.5908delT, NM_000106.5:c.454delT, NM_001025161.2:c.353-140delT, NP_000097.3:p.Trp152Glyfs, NT_187682.1:g.51425delA, NW_004504305.1:g.51411delA, NW_009646208.1:g.14650delA, XM_005278353.1:c.363-141delT, XM_005278354.1:c.155delT, XM_005278354.3:c.155delT, XM_011529966.1:c.454delT, XM_011529967.1:c.454delT, XM_011529968.1:c.454delT, XM_011529969.1:c.311delT, XM_011529970.1:c.353-140delT, XM_011529971.1:c.311delT, XM_011529972.1:c.454delT, XM_011547541.1:c.155delT, XM_011547750.1:c.311delT, XM_011547751.1:c.238delT, XM_011547756.1:c.-951delA, XM_011548819.1:c.155delT, XP_005278411.1:p.Val52Glyfs, XP_011528268.1:p.Trp152Glyfs, XP_011528269.1:p.Trp152Glyfs, XP_011528270.1:p.Trp152Glyfs, XP_011528271.1:p.Val104Glyfs, XP_011528273.1:p.Val104Glyfs, XP_011528274.1:p.Trp152Glyfs, XP_011545843.1:p.Val52Glyfs, XP_011546052.1:p.Val104Glyfs, XP_011546053.1:p.Trp80Glyfs, XP_011547121.1:p.Val52Glyfs, XR_430455.2:n.-787delA, XR_952745.1:n.1611delT, rs11568727, rs28371709 |
A > -
A > A
|
indel |
W152G
|
|||
| rs5030656 | NC_000022.10:g.42524176_42524178delCTT, NC_000022.11:g.42128174_42128176delCTT, NG_008376.3:g.6816_6818delAAG, NM_000106.5:c.841_843delAAG, NM_001025161.2:c.688_690delAAG, NP_000097.3:p.Lys281del, NP_001020332.2:p.Lys230del, NT_187682.1:g.50515_50517delCTT, NW_004504305.1:g.50501_50503delCTT, NW_009646208.1:g.13740_13742delCTT, XM_005278353.1:c.697_699delAAG, XM_005278354.1:c.541_543delAAG, XM_005278354.3:c.541_543delAAG, XM_011529966.1:c.841_843delAAG, XM_011529967.1:c.841_843delAAG, XM_011529968.1:c.841_843delAAG, XM_011529969.1:c.697_699delAAG, XM_011529970.1:c.688_690delAAG, XM_011529971.1:c.697_699delAAG, XM_011529972.1:c.841_843delAAG, XM_011547541.1:c.541_543delAAG, XM_011547750.1:c.697_699delAAG, XM_011547751.1:c.625_627delAAG, XM_011547756.1:c.-1861_-1859del, XM_011548819.1:c.541_543delAAG, XP_005278410.1:p.Lys233del, XP_005278411.1:p.Lys181del, XP_011528268.1:p.Lys281del, XP_011528269.1:p.Lys281del, XP_011528270.1:p.Lys281del, XP_011528271.1:p.Lys233del, XP_011528272.1:p.Lys230del, XP_011528273.1:p.Lys233del, XP_011528274.1:p.Lys281del, XP_011545843.1:p.Lys181del, XP_011546052.1:p.Lys233del, XP_011546053.1:p.Lys209del, XP_011547121.1:p.Lys181del, XR_430455.2:n.-1697_-1695del, XR_952745.1:n.1998_2000delAAG, rs587777919 |
CTT > -
CTT > CTT
|
indel | ||||
| rs518147 | NC_000023.10:g.113818582G=, NC_000023.10:g.113818582G>C, NC_000023.11:g.114584109C>G, NG_012082.2:g.5025C=, NG_012082.2:g.5025C>G, NM_000868.3:c.-697C=, NM_000868.3:c.-697C>G, NM_001256760.2:c.-788C=, NM_001256760.2:c.-788C>G, NM_001256761.2:c.-697C=, NM_001256761.2:c.-697C>G, NW_004070891.1:g.252911C=, NW_004070891.1:g.252911C>G, rs17326409, rs3813930 |
G > C
|
SNP | ||||
| rs59421388 | NC_000022.10:g.42523610C>T, NC_000022.11:g.42127608C>T, NG_008376.3:g.7384G>A, NM_000106.5:c.1012G>A, NM_001025161.2:c.859G>A, NP_000097.3:p.Val338Met, NP_001020332.2:p.Val287Met, NT_187682.1:g.49949C>T, NW_004504305.1:g.49935C>T, NW_009646208.1:g.13174C>T, XM_005278353.1:c.868G>A, XM_005278354.1:c.712G>A, XM_005278354.3:c.712G>A, XM_011529966.1:c.1012G>A, XM_011529967.1:c.1012G>A, XM_011529968.1:c.1012G>A, XM_011529969.1:c.868G>A, XM_011529970.1:c.859G>A, XM_011529971.1:c.868G>A, XM_011529972.1:c.870G>A, XM_011547541.1:c.*118G>A, XM_011547750.1:c.868G>A, XM_011547751.1:c.796G>A, XM_011548819.1:c.*118G>A, XP_005278410.1:p.Val290Met, XP_005278411.1:p.Val238Met, XP_011528268.1:p.Val338Met, XP_011528269.1:p.Val338Met, XP_011528270.1:p.Val338Met, XP_011528271.1:p.Val290Met, XP_011528272.1:p.Val287Met, XP_011528273.1:p.Val290Met, XP_011528274.1:p.Thr290=, XP_011546052.1:p.Val290Met, XP_011546053.1:p.Val266Met, XR_952745.1:n.2027G>A |
C > T
|
SNP |
V338M
|
|||
| rs61736512 | NC_000022.10:g.42525134C>T, NC_000022.11:g.42129132C>T, NG_008376.3:g.5860G>A, NM_000106.5:c.406G>A, NM_001025161.2:c.353-188G>A, NP_000097.3:p.Val136Met, NT_187682.1:g.51473C>T, NW_004504305.1:g.51459C>T, NW_009646208.1:g.14698C>T, XM_005278353.1:c.363-189G>A, XM_005278354.1:c.107G>A, XM_005278354.3:c.107G>A, XM_011529966.1:c.406G>A, XM_011529967.1:c.406G>A, XM_011529968.1:c.406G>A, XM_011529969.1:c.263G>A, XM_011529970.1:c.353-188G>A, XM_011529971.1:c.263G>A, XM_011529972.1:c.406G>A, XM_011547541.1:c.107G>A, XM_011547750.1:c.263G>A, XM_011547751.1:c.190G>A, XM_011547756.1:c.-903C>T, XM_011548819.1:c.107G>A, XP_005278411.1:p.Arg36His, XP_011528268.1:p.Val136Met, XP_011528269.1:p.Val136Met, XP_011528270.1:p.Val136Met, XP_011528271.1:p.Arg88His, XP_011528273.1:p.Arg88His, XP_011528274.1:p.Val136Met, XP_011545843.1:p.Arg36His, XP_011546052.1:p.Arg88His, XP_011546053.1:p.Val64Ile, XP_011547121.1:p.Arg36His, XR_430455.2:n.-739C>T, XR_952745.1:n.1563G>A |
C > T
|
SNP |
V136M
|
|||
| rs6277 | NC_000011.10:g.113412737G>A, NC_000011.9:g.113283459G>A, NG_008841.1:g.67543C>T, NM_000795.3:c.957C>T, NM_016574.3:c.870C>T, NP_000786.1:p.Pro319=, NP_057658.2:p.Pro290=, XM_005271425.1:c.957C>T, XM_005271426.1:c.954C>T, XP_005271482.1:p.Pro319=, XP_005271483.1:p.Pro318=, rs1071576, rs1075651, rs17413837, rs3189090 |
G > A
|
SNP |
P319P
|
|||
| rs6280 | NC_000003.11:g.113890815C>T, NC_000003.12:g.114171968C>T, NG_008842.2:g.32440G>A, NM_000796.5:c.25G>A, NM_001282563.2:c.25G>A, NM_001290809.1:c.25G>A, NM_033663.5:c.25G>A, NP_000787.2:p.Gly9Ser, NP_001269492.1:p.Gly9Ser, NP_001277738.1:p.Gly9Ser, NP_387512.3:p.Gly9Ser, XM_005247170.1:c.25G>A, XM_005247171.1:c.25G>A, XM_011512510.1:c.25G>A, XM_011512511.1:c.25G>A, XM_011512512.1:c.25G>A, XP_005247227.1:p.Gly9Ser, XP_005247228.1:p.Gly9Ser, XP_011510812.1:p.Gly9Ser, XP_011510813.1:p.Gly9Ser, XP_011510814.1:p.Gly9Ser, rs117481259, rs324025, rs52792556, rs59703514 |
C > T
|
SNP |
G9S
|
|||
| rs6295 | NC_000005.10:g.63962738C>G, NC_000005.9:g.63258565C>G, NG_032816.1:g.4555G>C, NM_000524.3:c.-1019G>C |
C > G
|
SNP | ||||
| rs6318 | NC_000023.10:g.113965735G=, NC_000023.10:g.113965735G>C, NC_000023.11:g.114731326C=, NC_000023.11:g.114731326C>G, NG_012082.2:g.152242G=, NG_012082.2:g.152242G>C, NM_000868.3:c.68G=, NM_000868.3:c.68G>C, NM_001256760.2:c.68G=, NM_001256760.2:c.68G>C, NM_001256761.2:c.68G=, NM_001256761.2:c.68G>C, NP_000859.1:p.Cys23=, NP_000859.1:p.Cys23Ser, NP_001243689.1:p.Cys23=, NP_001243689.1:p.Cys23Ser, NP_001243690.1:p.Cys23=, NP_001243690.1:p.Cys23Ser, NW_004070891.1:g.400128C=, NW_004070891.1:g.400128C>G, XR_944300.1:n.209-550C>G, XR_944300.1:n.209-550G>C, XR_944301.1:n.209-550C>G, XR_944301.1:n.209-550G>C |
G > C
|
SNP |
C23S
|
|||
| rs646749 | NC_000018.10:g.60215892G>A, NC_000018.9:g.57883125G>A, rs386602927, rs60191783 |
G > A
|
SNP | ||||
| rs686 | NC_000005.10:g.175441697G>A, NC_000005.9:g.174868700G>A, NG_011802.1:g.7464C>T, NM_000794.3:c.*62C>T, rs1301802, rs17065037, rs251938, rs58350939 |
G > A
|
SNP | ||||
| rs72547516 | NC_000015.10:g.74752237A>G, NC_000015.10:g.74752237A>T, NC_000015.9:g.75044578A>G, NC_000015.9:g.75044578A>T, NG_008431.1:g.34696A>G, NG_008431.1:g.34696A>T, NM_000761.3:c.1156A>G, NM_000761.3:c.1156A>T, NM_000761.4:c.1156A>G, NM_000761.4:c.1156A>T, NP_000752.2:p.Ile386Phe, NP_000752.2:p.Ile386Val |
A > G
A > T
|
SNP |
I386F/V
|
|||
| rs72547517 | NC_000015.10:g.74754904G>A, NC_000015.9:g.75047245G>A, NG_008431.1:g.37363G>A, NM_000761.3:c.1367G>A, NM_000761.4:c.1367G>A, NP_000752.2:p.Arg456His |
G > A
|
SNP |
R456H
|
|||
| rs742105 | NC_000006.11:g.15573074C>T, NC_000006.12:g.15572843C>T, NG_009309.1:g.95198G>A, NM_001271667.1:c.268+20216G>A, NM_001271668.1:c.460+20216G>A, NM_001271669.1:c.406+20216G>A, NM_032122.4:c.511+20216G>A, NM_183040.2:c.511+20216G>A, NR_036448.1:n.839+20216G>A, XM_005249447.1:c.472+20216G>A, XM_005249447.3:c.472+20216G>A, XM_005249448.1:c.43+12876G>A, XM_011514936.1:c.421+20216G>A, XM_011514937.1:c.43+12876G>A |
C > T
|
SNP | ||||
| rs762551 | NC_000015.10:g.74749576C>A, NC_000015.9:g.75041917C>A, NG_008431.1:g.32035C>A, NM_000761.3:c.-9-154C>A, NM_000761.4:c.-9-154C>A, rs17861151, rs57172993 |
C > A
|
SNP | ||||
| rs7787082 | NC_000007.13:g.87157051G>A, NC_000007.14:g.87527735G>A, NG_011513.1:g.190514C>T, NM_000927.4:c.2685+3559C>T, rs10352064, rs17333784, rs56434207, rs56854239 |
G > A
|
SNP | ||||
| rs806378 | NC_000006.11:g.88859551C>T, NC_000006.12:g.88149832C>T, NM_001160226.1:c.-206-2026G>A, NM_001160258.1:c.-206-2026G>A, NM_001160259.1:c.-63-4495G>A, NM_016083.4:c.-63-4495G>A, XM_005248649.1:c.-63-4495G>A, XM_005248650.3:c.-255+651G>A, XM_005248651.1:c.-63-4495G>A, XM_005248652.1:c.-79-4495G>A, XM_006715330.2:c.-63-4495G>A, XM_011535424.1:c.-254-2026G>A, XM_011535425.1:c.-254-2026G>A, XM_011535426.1:c.-255+651G>A, XM_011535427.1:c.-255+651G>A, XM_011535428.1:c.-63-4495G>A, rs1744433 |
C > T
|
SNP | ||||
| rs8087522 | NC_000018.10:g.60373245G>A, NC_000018.9:g.58040478G>A, NG_016441.1:g.4524C>T, NM_005912.2:c.-896C>T |
G > A
|
SNP | ||||
| rs8175347 |
(TA)6 > (TA)5
(TA)6 > (TA)7
(TA)6 > (TA)8
|
microsatellite | |||||
| rs9852 | NC_000004.11:g.38139024C>T, NC_000004.12:g.38137403C>T, NM_001253912.1:c.*68C>T, NM_001253913.1:c.*68C>T, NM_001253914.1:c.*68C>T, NM_001253915.1:c.*68C>T, NM_015173.3:c.*68C>T, XM_005262646.1:c.*68C>T, XM_005262647.1:c.*68C>T, XM_005262648.1:c.*68C>T, XM_005262649.1:c.*68C>T, XM_005262650.1:c.*68C>T, XM_005262651.1:c.*68C>T, XM_006714001.1:c.*68C>T, XM_011513659.1:c.*68C>T, XM_011513660.1:c.*68C>T, XM_011513661.1:c.*68C>T, XM_011513662.1:c.*68C>T, XM_011513663.1:c.*68C>T, XM_011513664.1:c.*68C>T, XM_011513665.1:c.*68C>T, XM_011513666.1:c.*68C>T, XM_011513667.1:c.*68C>T, XM_011513669.1:c.*68C>T, XM_011513670.1:c.*68C>T, rs17580009, rs3186425, rs61627288 |
C > T
|
SNP |
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147
Overview
Generic Names
- Clozapin
Trade Names
- Asaleptin
- Clozaril
- Fazaclo ODT
- Iprox
- Leponex
- Lepotex
Brand Mixture Names
PharmGKB Accession Id
PA449061
Type(s):
Drug
Metabolite(s):
Description
A tricylic dibenzodiazepine, classified as an atypical antipsychotic agent. It binds several types of central nervous system receptors, and displays a unique pharmacological profile. Clozapine is a serotonin antagonist, with strong binding to 5-HT 2A/2C receptor subtype. It also displays strong affinity to several dopaminergic receptors, but shows only weak antagonism at the dopamine D2 receptor, a receptor commonly thought to modulate neuroleptic activity. Agranulocytosis is a major adverse effect associated with administration of this agent.
Source: Drug Bank
Other Vocabularies
- ATC: Diazepines, oxazepines and thiazepines (N05AH)
- UMLS: Clozapine (C0009079)
- RxNorm: Clozapine (2626)
- NDFRT: CLOZAPINE (N0000147608)
Information pulled from DrugBank has not been reviewed by PharmGKB.
Pharmacology, Interactions, and Contraindications
Mechanism of Action
Clozapine's antipsychotic action is likely mediated through a combination of antogistic effects at D2 receptors in the mesolimbic pathway and 5-HT2A receptors in the frontal cortex. D2 antagonism relieves positive symptoms while 5-HT2A antagonism alleviates negative symptoms.
Source: Drug Bank
Pharmacology
Clozapine is a psychotropic agent belonging to the chemical class of benzisoxazole derivatives and is indicated for the treatment of schizophrenia. Clozapine is a selective monoaminergic antagonist with high affinity for the serotonin Type 2 (5HT ~2~), dopamine Type 2 (D2), 1 and 2 adrenergic, and H1 histaminergic receptors. Clozapine acts as an antagonist at other receptors, but with lower potency. Antagonism at receptors other than dopamine and 5HT ~2~ with similar receptor affinities may explain some of the other therapeutic and side effects of Clozapine. Clozapine's antagonism of muscarinic M1-5 receptors may explain its anticholinergic effects. Clozapine's antagonism of histamine H1 receptors may explain the somnolence observed with this drug. Clozapine's antagonism of adrenergic a1 receptors may explain the orthostatic hypotension observed with this drug.
Source: Drug Bank
Food Interaction
Avoid alcohol.|Limit caffeine intake (may reduce clozapine matabolism).|Take without regard to meals.
Source: Drug Bank
Absorption, Distribution, Metabolism, Elimination & Toxicity
Route of Elimination
Approximately 50% of the administered dose is excreted in the urine and 30% in the feces.
Source: Drug Bank
Chemical Properties
SMILES
CN1CCN(CC1)C1=NC2=CC(Cl)=CC=C2NC2=CC=CC=C12
Source: Drug Bank
InChI String
InChI=1S/C18H19ClN4/c1-22-8-10-23(11-9-22)18-14-4-2-3-5-15(14)20-16-7-6-13(19)12-17(16)21-18/h2-7,12,20H,8-11H2,1H3
Source: Drug Bank
Genes that are associated with this drug in PharmGKB's database based on (1) variant annotations, (2) literature review, (3) pathways or (4) information automatically retrieved from DrugBank, depending on the "evidence" and "source" listed below.
Curated Information ?
Drug Targets
| Gene | Description |
|---|---|
| ADRA1A | (source: Drug Bank ) |
| ADRA1B | (source: Drug Bank ) |
| ADRA2A | (source: Drug Bank ) |
| ADRA2B | (source: Drug Bank ) |
| ADRA2C | (source: Drug Bank ) |
| CALY | (source: Drug Bank ) |
| CHRM1 | (source: Drug Bank ) |
| CHRM2 | (source: Drug Bank ) |
| CHRM3 | (source: Drug Bank ) |
| CHRM4 | (source: Drug Bank ) |
| CHRM5 | (source: Drug Bank ) |
| DRD1 | (source: Drug Bank ) |
| DRD2 | (source: Drug Bank ) |
| DRD3 | (source: Drug Bank ) |
| DRD4 | (source: Drug Bank ) |
| HRH1 | (source: Drug Bank ) |
| HRH4 | (source: Drug Bank ) |
| HTR1A | (source: Drug Bank ) |
| HTR1B | (source: Drug Bank ) |
| HTR1D | (source: Drug Bank ) |
| HTR1E | (source: Drug Bank ) |
| HTR2A | (source: Drug Bank ) |
| HTR2C | (source: Drug Bank ) |
| HTR3A | (source: Drug Bank ) |
| HTR6 | (source: Drug Bank ) |
| HTR7 | (source: Drug Bank ) |
Curated Information ?
Relationships from National Drug File - Reference Terminology (NDF-RT)
May Treat
- clozapine may treat Bipolar Disorder
- clozapine may treat Psychotic Disorders
- clozapine may treat Schizophrenia
Contraindicated With
- clozapine contraindicated with Agranulocytosis
- clozapine contraindicated with Coma
- clozapine contraindicated with Drug Hypersensitivity
- clozapine contraindicated with Epilepsy
- clozapine contraindicated with Myeloproliferative Disorders
- clozapine contraindicated with Neutropenia
Publications related to clozapine: 132
LinkOuts
- Web Resource:
- Wikipedia
- National Drug Code Directory:
- 57664-345-88
- DrugBank:
- DB00363
- ChEBI:
- 3766
- KEGG Compound:
- C06924
- BindingDB:
- 22869
- ChemSpider:
- 2716
- Therapeutic Targets Database:
- DAP000029
- FDA Drug Label at DailyMed:
- 53bdb79c-c4cf-4818-b1f0-225e67a14536
Clinical Trials
These are trials that mention clozapine and are related to either pharmacogenetics or pharmacogenomics.
No trials loaded.
NURSA Datasets
provided by nursa.org
No NURSA datasets available.