Clinical Annotations
To see the clinical annotation for this variant please register or sign in.
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 4 annotations for this variant. Register or sign in to see them.
VIP Variant in CYP2A6
The rs1801272 SNP (g.1799T>A) results in a Leu160His amino acid change, and is part of the CYP2A6*2 allele (see the *2 haplotype page for more details). It has been associated with slow metabolism of letrozole (when grouped with other alleles into the slow metabolizer phenotype) [Article:21975350], and reduced efavirenz metabolism (when grouped with other alleles to give two loss-of-function alleles) [Article:19238117].
Please note; another variant also make up the CYP2A6*2 allele, as defined by the CYP-450 nomenclature committee: http://www.cypalleles.ki.se/cyp2a6.htm. See the CYP2A6 haplotype sheet for more details.
The CYP2A6 gene is found on the minus chromosomal strand. Please note that for standardization, the PharmGKB presents all allele base pairs on the positive chromosomal strand, therefore the alleles within our variant annotations and haplotypes will differ (in a complementary manner) from those in this VIP summary that are given on the minus strand as reported in the literature.
Publications related to rs1801272 at chr19:41354533: 3
| Impact of CYP2A6 genotype on pretreatment smoking behaviour and nicotine levels from and usage of nicotine replacement therapy. Molecular psychiatry. 2006. Malaiyandi V, et al. [Article:16402128@PubMed] | |
| Genotyping of human cytochrome P450 2A6 (CYP2A6), a nicotine C-oxidase. FEBS letters. 1998. Oscarson M, et al. [Article:9827545@PubMed] | |
| A single amino acid substitution (Leu160His) in cytochrome P450 CYP2A6 causes switching from 7-hydroxylation to 3-hydroxylation of coumarin. Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association. 1997. Hadidi H, et al. [Article:9409631@PubMed] |
Cross-References
- UCSC Golden Path:
- chr19:41354533
- dbSNP:
- rs1801272
- HapMap:
- rs1801272
- LS-SNP:
- rs1801272
Platform Availability
- Illumina