Variant:
rs1135840 at chr22:42522613 in CYP2D6

Alleles (on + chromosomal strand)
G > C
Amino Acid Translation
Thr486Ser
Alternate Names:
CYP2D6: S486T, CYP2D6:4180G>C, c.1304C>G, c.1457C>G, g.21913182G>C, g.28906C>G, g.40852557G>C, g.4327C>G, g.9271C>G, p.Thr435Ser, p.Thr486Ser, part of CYP2D6*2A an extensive metabolizer haplotype.

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.

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There are 1 disease-related annotations for this variant. Register or sign in to see them.

Connected Drugs

Evidence Drug
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
tamoxifen

Connected Diseases

Evidence Disease
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Breast Neoplasms

Publications related to rs1135840 at chr22:42522613: 1

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Efficacy of tamoxifen based on cytochrome P450 2D6, CYP2C19 and SULT1A1 genotype in the Italian Tamoxifen Prevention Trial. The pharmacogenomics journal. 2010. Serrano D, et al. [Article:20309015@PubMed]

Cross-References

UCSC Golden Path:
chr22:42522613
dbSNP:
rs1135840
ALFRED:
SI015500L

Common Searches

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