Clinical Annotations
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Variant Annotations
PharmGKB variant annotations provide information about variant-drug pairs based on individual PubMed publications. Each annotation represents information from a single paper and the goal is to report the information that the author states, not an interpretation of the paper. The PMID for supporting PubMed publications is found in the "Evidence" field.
Information presented, including study size, allele frequencies and statistics is taken directly from the publication. However, if the author does not correct p-values in cases of multiple hypotheses, curators may apply a Bonferroni correction. Curators attempt to report study size based on the actual number of participants used for the calculation of the association statistics, so the number may vary slightly from what is reported in the abstract of the paper. OMB Race Category information is derived from the paper and mapped to standardized categories. Category definitions may be found by clicking on the "OMB Race Category" link.
There are 38 annotations for this variant. Register or sign in to see them.
There are 4 disease-related annotations for this variant. Register or sign in to see them.
VIP Variant in CYP2C19
rs4244285 (c.681G>A) is the defining polymorphism of the CYP2C19*2 allele (previously referred to as CYP2C19m1) and is a synonymous G>A transition in exon 5 that creates an aberrant splice site. This change alters the mRNA reading frame, which results in a truncated, non-functional protein [Article:8195181]. CYP2C19*2 is the most common CYP2C19 loss-of-function allele, with allele frequencies of approximately 12% in Caucasians, 15% in African-Americans, and 29-35% in Asians [Article:21716271]. For more information see also CYP2C19*2 haplotype page.
| Key Publications: | |
|---|---|
| Drugs / Other Molecules |
Drug (26)
amitriptyline
carisoprodol
citalopram
clomipramine
clopidogrel
cyclophosphamide
hexobarbital
imipramine
indomethacin
lansoprazole
mephenytoin
methylphenobarbital
moclobemide
nelfinavir
nilutamide
omeprazole
pantoprazole
phenobarbital
phenytoin
primidone
progesterone
proguanil
propranolol
rabeprazole
teniposide
warfarin
|
Appendix
Name: CYP2C19:681G>A
mRNA Variant & GenBank ID: G>A at 681 on NM_000769
Genomic Variant & GenBank ID: G>A at 21158 on AY796203.1
Protein Variant & GenBank ID: Pro>Pro at 227 on NP_000760
Key Haplotypes CYP2C19*2
gp: chr10:96531606(hg18)
Connected Drugs
Connected Drug Classes
| Evidence | Drug Class |
|---|---|
| Variant Annotation | Proton pump inhibitors |
Publications related to rs4244285 at chr10:96541616: 31
Cross-References
- UCSC Golden Path:
- chr10:96541616
- dbSNP:
- rs4244285
- ALFRED:
- SI015423P
- HapMap:
- rs4244285
Platform Availability
- Illumina