Annotation Detail
Information
- Associated Genes
- ERCC4
- Associated Variants
-
ERCC4 p.Arg799Trp (p.R799W)
(
ENST00000311895.8,
ENST00000682617.1 )
ERCC4 p.Arg799Trp (p.R799W) ( ENST00000311895.8, ENST00000682617.1 ) - Associated Disease
- xeroderma pigmentosum
- Source Database
- ClinVar
- Description
- NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) AND Xeroderma pigmentosum
- ClinVar Allele ID
- 31619
- ClinVar RefSeq Alternation Syntax
- NM_005236.3:c.2395C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-05-21
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002257360
- ClinVar Disease
- Xeroderma pigmentosum
- Observed Origin Sample
- germline
Drugs