Annotation Detail
Information
- Associated Genes
- XRCC1
- Associated Variants
-
XRCC1 p.Arg339Gln (p.R339Q)
(
ENST00000262887.10,
ENST00000543982.5 )
XRCC1 p.Arg339Gln (p.R339Q) ( ENST00000262887.10, ENST00000543982.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_006297.3(XRCC1):c.1016G>A (p.Arg339Gln) AND not provided
- ClinVar Allele ID
- 1295820
- ClinVar RefSeq Alternation Syntax
- NM_006297.3:c.1016G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2020-07-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001771051
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs