Annotation Detail

Information
Associated Genes
XRCC2
Associated Variants
XRCC2 p.Arg188His (p.R188H) ( ENST00000359321.2, ENST00000698506.1 )
XRCC2 p.Arg188His (p.R188H) ( ENST00000359321.2, ENST00000698506.1 )
Associated Disease
Hereditary cancer-predisposing syndrome
Source Database
ClinVar
Description
NM_005431.2(XRCC2):c.563G>A (p.Arg188His) AND Hereditary cancer-predisposing syndrome
ClinVar Allele ID
474617
ClinVar RefSeq Alternation Syntax
NM_005431.2:c.563G>A
Clinical Significance Description
Benign
Clinical Significance Last Update
2016-08-17
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000570093
ClinVar Disease
Hereditary cancer-predisposing syndrome
Observed Origin Sample
germline
Drugs