Annotation Detail
Information
- Associated Genes
- ERCC4
- Associated Variants
-
ERCC4 p.Arg415Gln (p.R415Q)
(
ENST00000311895.8,
ENST00000682617.1 )
ERCC4 p.Arg415Gln (p.R415Q) ( ENST00000311895.8, ENST00000682617.1 ) - Associated Disease
- Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F
- Source Database
- ClinVar
- Description
- NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) AND multiple conditions
- ClinVar Allele ID
- 137894
- ClinVar RefSeq Alternation Syntax
- NM_005236.3:c.1244G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001521901
- ClinVar Disease
- Xeroderma pigmentosum, group F
- ClinVar Disease
- Cockayne syndrome
- ClinVar Disease
- Fanconi anemia complementation group Q
- Observed Origin Sample
- germline
Drugs