Annotation Detail

Information
Associated Genes
XRCC1
Associated Variants
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
Source Database
ClinVar
Description
NM_006297.3(XRCC1):c.1196A>G (p.Gln399Arg) AND Platinum compounds response - Efficacy
ClinVar Allele ID
227806
ClinVar RefSeq Alternation Syntax
NM_006297.3:c.1196A>G
Clinical Significance Description
drug response
Clinical Significance Last Update
2021-03-24
Clinical Significance Review Status
reviewed by expert panel
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000660800
Observed Origin Sample
germline
Drugs