Gene:
PTH1R
parathyroid hormone 1 receptor

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

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.

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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 on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all variant annotations for PTH1R

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs1138518 NC_000003.11:g.46944274T>C, NC_000003.12:g.46902784T>C, NG_008864.1:g.30039T>C, NM_000316.2:c.1389T>C, NM_001184744.1:c.1389T>C, NP_000307.1:p.Asn463=, NP_001171673.1:p.Asn463=, XM_005265341.1:c.1428T>C, XM_005265342.1:c.1389T>C, XM_005265343.1:c.1335T>C, XM_005265344.1:c.1296T>C, XM_005265344.2:c.1296T>C, XM_011533967.1:c.1428T>C, XM_011533968.1:c.1410T>C, XP_005265398.1:p.Asn476=, XP_005265399.1:p.Asn463=, XP_005265400.1:p.Asn445=, XP_005265401.1:p.Asn432=, XP_011532269.1:p.Asn476=, XP_011532270.1:p.Asn470=, rs11545034, rs17435012, rs1869872, rs3202529, rs58779339
T > C
SNP
N463N
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names:  PTHR; PTHR1
Alternate Symbols:  None
PharmGKB Accession Id: PA33953

Details

Cytogenetic Location: chr3 : p21.31 - p21.31
GP mRNA Boundary: chr3 : 46919236 - 46945289
GP Gene Boundary: chr3 : 46909236 - 46948289
Strand: plus

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.
No related genes are available

Curated Information ?

Evidence Drug
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
dexamethasone
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
teriparatide

Curated Information ?

Publications related to PTH1R: 4

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. American journal of human genetics. 2008. Decker Eva, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
A PAI-1 (SERPINE1) polymorphism predicts osteonecrosis in children with acute lymphoblastic leukemia: a report from the Children's Oncology Group. Blood. 2008. French Deborah, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Parathyroid hormone: past and present. The Journal of endocrinology. 2005. Potts John T. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Molecular mechanisms of ligand recognition by parathyroid hormone 1 (PTH1) and PTH2 receptors. Current pharmaceutical design. 2001. Hoare S R, et al. PubMed

LinkOuts

NCBI Gene:
5745
OMIM:
125350
156400
166000
168468
215045
600002
UCSC Genome Browser:
NM_000316
RefSeq RNA:
NM_000316
NM_001184744
RefSeq Protein:
NP_000307
NP_001171673
RefSeq DNA:
NG_008864
NT_022517
UniProtKB:
PTH1R_HUMAN (Q03431)
Ensembl:
ENSG00000160801
GenAtlas:
PTHR1
GeneCard:
PTH1R
PTHR1
MutDB:
PTHR1
ALFRED:
LO010611J
HuGE:
PTHR1
Comparative Toxicogenomics Database:
5745
HumanCyc Gene:
HS08537
IUPHAR Receptor:
PTH1 (331)
HGNC:
9608

Common Searches