Annotation Detail
Information
- Associated Genes
- ERCC2
- Associated Variants
-
ERCC2 p.Arg616Trp (p.R616W)
(
ENST00000391944.8,
ENST00000391945.10,
ENST00000684407.1 )
ERCC2 p.Arg616Trp (p.R616W) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 ) - Associated Disease
- Xeroderma pigmentosum, group D
- Source Database
- ClinVar
- Description
- NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) AND Xeroderma pigmentosum, group D
- ClinVar Allele ID
- 31827
- ClinVar RefSeq Alternation Syntax
- NM_000400.4:c.1846C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2001-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018278
- ClinVar Disease
- Xeroderma pigmentosum, group D
- Observed Origin Sample
- germline
- Pubmed
- 11443545
- Pubmed
- 9238033
Drugs