Annotation Detail
Information
- Associated Genes
- ERCC4
- Associated Variants
-
ERCC4 p.Glu875Gly (p.E875G)
(
ENST00000311895.8,
ENST00000682617.1 )
ERCC4 p.Glu875Gly (p.E875G) ( ENST00000311895.8, ENST00000682617.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 134454
- ClinVar RefSeq Alternation Syntax
- NM_005236.3:c.2624A>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2015-12-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000210773
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs