Annotation Detail
Information
- Associated Genes
- ERCC4
- Associated Variants
-
ERCC4 p.Arg153Pro (p.R153P)
(
ENST00000311895.8,
ENST00000575156.5,
ENST00000682617.1 )
ERCC4 p.Arg153Pro (p.R153P) ( ENST00000311895.8, ENST00000575156.5, ENST00000682617.1 ) - Associated Disease
- XFE progeroid syndrome
- Source Database
- ClinVar
- Description
- NM_005236.3(ERCC4):c.458G>C (p.Arg153Pro) AND XFE progeroid syndrome
- ClinVar Allele ID
- 31620
- ClinVar RefSeq Alternation Syntax
- NM_005236.3:c.458G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2006-12-21
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018049
- ClinVar Disease
- XFE progeroid syndrome
- Observed Origin Sample
- germline
- Pubmed
- 17183314
Drugs