Annotation Detail
Information
- Associated Genes
- ERCC4
- Associated Variants
-
ERCC4 p.Val498Ala (p.V498A)
(
ENST00000311895.8,
ENST00000682617.1 )
ERCC4 p.Val498Ala (p.V498A) ( ENST00000311895.8, ENST00000682617.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_005236.3(ERCC4):c.1493T>C (p.Val498Ala) AND not provided
- ClinVar Allele ID
- 1305879
- ClinVar RefSeq Alternation Syntax
- NM_005236.3:c.1493T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2019-07-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001755281
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs