Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 p.Arg683Trp (p.R683W)
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000684407.1 )
ERCC2 p.Arg683Trp (p.R683W) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 ) - Associated Disease
- Malignant neoplasm of skin
- Source Database
- DisGeNET
- Description
- Many XP patients are compound heterozygotes with a causative XPD point mutation R683W and different second mutant alleles, considered null alleles. However, there is marked clinical heterogeneity (including presence or absence of skin cancers or neurological degeneration) in these XPD/R683W patients, thus suggesting a contribution of the second allele.
- Pubmed
- 19934020
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00481000882732476
- Year of publication
- 2009
Drugs