Annotation Detail
Information
- Associated Genes
- ERCC4
- Associated Variants
-
ERCC4 p.Arg153His (p.R153H)
(
ENST00000682617.1,
ENST00000575156.5,
ENST00000311895.8 )
ERCC4 p.Arg153His (p.R153H) ( ENST00000311895.8, ENST00000575156.5, ENST00000682617.1 ) - Associated Disease
- Cockayne syndrome Xeroderma pigmentosum, group F Fanconi anemia complementation group Q
- Source Database
- ClinVar
- Description
- NM_005236.3(ERCC4):c.458G>A (p.Arg153His) AND multiple conditions
- ClinVar Allele ID
- 1937363
- ClinVar RefSeq Alternation Syntax
- NM_005236.3:c.458G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-09-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003105227
- ClinVar Disease
- Xeroderma pigmentosum, group F
- ClinVar Disease
- Cockayne syndrome
- ClinVar Disease
- Fanconi anemia complementation group Q
- Observed Origin Sample
- germline
Drugs