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
not specified
Source Database
ClinVar
Description
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) AND not specified
ClinVar Allele ID
134454
ClinVar RefSeq Alternation Syntax
NM_005236.3:c.2624A>G
Clinical Significance Description
Benign
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000116989
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs