Annotation Detail
Information
- Associated Genes
- ERCC4
- Associated Variants
-
ERCC4 p.Ser835= (p.S835=)
(
ENST00000311895.8,
ENST00000682617.1 )
ERCC4 p.Ser835= (p.S835=) ( ENST00000311895.8, ENST00000682617.1 ) - Associated Disease
- XFE progeroid syndrome
- Source Database
- ClinVar
- Description
- NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) AND XFE progeroid syndrome
- ClinVar Allele ID
- 134453
- ClinVar RefSeq Alternation Syntax
- NM_005236.3:c.2505T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001657726
- ClinVar Disease
- XFE progeroid syndrome
- Observed Origin Sample
- germline
Drugs