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 ) - Associated Disease
- Spinocerebellar ataxia, autosomal recessive 26
- Source Database
- ClinVar
- Description
- NM_006297.3(XRCC1):c.1196A>G (p.Gln399Arg) AND Spinocerebellar ataxia, autosomal recessive 26
- ClinVar Allele ID
- 227806
- ClinVar RefSeq Alternation Syntax
- NM_006297.3:c.1196A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-12-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002243894
- ClinVar Disease
- Spinocerebellar ataxia, autosomal recessive 26
- Observed Origin Sample
- germline
Drugs