Annotation Detail
Information
- Associated Genes
- XPC
- Associated Variants
-
XPC MUTATION
XPC MUTATION
XPC p.Ala499Val (p.A499V) ( ENST00000285021.12 )
XPC p.Ala499Val (p.A499V) ( ENST00000285021.12 ) - Associated Disease
- Malignant neoplasm of urinary bladder
- Source Database
- DisGeNET
- Description
- Individuals homozygous for the variant allele of XPC c.1496C > T (p.Ala499Val) were shown in a large pooled analysis to have an increased bladder cancer risk, and we found two 3'UTR variants, *611T > A and c.*618A > G, to be in strong linkage disequilibrium with c.1496T.
- Pubmed
- 21689419
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0317376310783087
- Year of publication
- 2011
Drugs