Variant:
rs1801265 at chr1:98348885 in DPYD

Alleles (on + chromosomal strand)
G > A
Amino Acid Translation
Cys29Arg
Alternate Names:
DPYD*9A, DPYD:C29R, DYPD:T85C, c.85C>T, c.85T>C, g.42731C>T, g.42731T>C, g.68320803G>A, g.98121473G>A, p.Cys29Arg

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 7 annotations for this variant. Register or sign in to see them.

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
fluorouracil
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
leucovorin

Connected Diseases

Publications related to rs1801265 at chr1:98348885: 6

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in Chinese cancer patients. Journal of clinical pharmacy and therapeutics. 2008. He Y-F, et al. [Article:18452418@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
5-Fluorouracil-related severe toxicity: a comparison of different methods for the pretherapeutic detection of dihydropyrimidine dehydrogenase deficiency. Cancer letters. 2007. Boisdron-Celle M, et al. [Article:17064846@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
DPYD*5 gene mutation contributes to the reduced DPYD enzyme activity and chemotherapeutic toxicity of 5-FU: results from genotyping study on 75 gastric carcinoma and colon carcinoma patients. Medical oncology (Northwood, London, England). 2007. Zhang Hong, et al. [Article:17848752@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance. Molecular cancer therapeutics. 2006. Morel Alain, et al. [Article:17121937@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects. Human mutation. 2003. Gross Eva, et al. [Article:14635116@PubMed]
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Human genetics. 1999. Van Kuilenburg A B, et al. [Article:10071185@PubMed]

Cross-References

UCSC Golden Path:
chr1:98348885
dbSNP:
rs1801265
ALFRED:
SI273211Q
HapMap:
rs1801265

Platform Availability

  • Illumina

Common Searches

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