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, group F Fanconi anemia complementation group Q Cockayne syndrome
- Source Database
- ClinVar
- Description
- NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) AND multiple conditions
- ClinVar Allele ID
- 31619
- ClinVar RefSeq Alternation Syntax
- NM_005236.3:c.2395C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-12-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000467658
- ClinVar Disease
- Xeroderma pigmentosum, group F
- ClinVar Disease
- Cockayne syndrome
- ClinVar Disease
- Fanconi anemia complementation group Q
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs