Annotation Detail
Information
- Associated Genes
- ERCC4
- Associated Variants
-
ERCC4 p.Pro379Ser (p.P379S)
(
ENST00000682617.1,
ENST00000311895.8 )
ERCC4 p.Pro379Ser (p.P379S) ( ENST00000311895.8, ENST00000682617.1 ) - Associated Disease
- XFE progeroid syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q
- Source Database
- ClinVar
- Description
- NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) AND multiple conditions
- ClinVar Allele ID
- 137887
- ClinVar RefSeq Alternation Syntax
- NM_005236.3:c.1135C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2022-08-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003224157
- ClinVar Disease
- Xeroderma pigmentosum, group F
- ClinVar Disease
- XFE progeroid syndrome
- ClinVar Disease
- Fanconi anemia complementation group Q
- Observed Origin Sample
- germline
Drugs