Annotation Detail
Information
- Associated Genes
- GABRA6
- Associated Variants
-
GABRA6 c.*135C>T
(
ENST00000274545.10,
ENST00000523217.5 )
GABRA6 c.*135C>T ( ENST00000274545.10, ENST00000523217.5 ) - Associated Disease
- childhood absence epilepsy
- Source Database
- ClinVar
- Description
- NM_000811.3(GABRA6):c.*135C>T AND Childhood absence epilepsy
- ClinVar Allele ID
- 1154988
- ClinVar RefSeq Alternation Syntax
- NM_000811.3:c.*135C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-04-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001521757
- ClinVar Disease
- Childhood absence epilepsy
- Observed Origin Sample
- germline
Drugs