Annotation Detail
Information
- Associated Genes
- ERCC4
- Associated Variants
-
NC_000016.10:g.13919809A>C
NC_000016.10:g.13919809A>C - Associated Disease
- Cockayne syndrome Fanconi anemia complementation group Q Xeroderma pigmentosum, group F
- Source Database
- ClinVar
- Description
- NC_000016.10:g.13919809A>C AND multiple conditions
- ClinVar Allele ID
- 1157625
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-07-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001510401
- ClinVar Disease
- Xeroderma pigmentosum, group F
- ClinVar Disease
- Cockayne syndrome
- ClinVar Disease
- Fanconi anemia complementation group Q
- Observed Origin Sample
- germline
Drugs