Annotation Detail
Information
- Associated Genes
- ERCC4
- Associated Variants
-
ERCC4 p.Ser662Pro (p.S662P)
(
ENST00000682617.1,
ENST00000311895.8 )
ERCC4 p.Ser662Pro (p.S662P) ( ENST00000311895.8, ENST00000682617.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro) AND not specified
- ClinVar Allele ID
- 137873
- ClinVar RefSeq Alternation Syntax
- NM_005236.3:c.1984T>C
- Clinical Significance Description
- Benign
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000120806
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs