Annotation Detail
Information
- Associated Genes
- XRCC1
- Associated Variants
-
XRCC1 p.Arg194Trp (p.R194W)
(
ENST00000262887.10,
ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_006297.3(XRCC1):c.580C>T (p.Arg194Trp) AND not provided
- ClinVar Allele ID
- 363234
- ClinVar RefSeq Alternation Syntax
- NM_006297.3:c.580C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-11-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001637014
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs