Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 p.Leu461Val (p.L461V)
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000684407.1 )
ERCC2 p.Leu461Val (p.L461V) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 ) - Associated Disease
- Xeroderma Pigmentosum, Complementation Group D
- Source Database
- DisGeNET
- Description
- In cell line GM436 a C-->G transversion was found at nucleotide position 1411 in the XPD (ERCC2) cDNA, a change expected to result in a Leu461Val substitution.
- Pubmed
- 7849702
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.565428837441606
- Year of publication
- 1994
Drugs