Annotation Detail
Information
- Associated Genes
- GABRA1
- Associated Variants
-
GABRA1 c.*470A>G
(
ENST00000393943.10,
ENST00000428797.7,
ENST00000437025.6,
ENST00000636573.1,
ENST00000638112.1,
ENST00000638159.1 )
GABRA1 c.*470A>G ( ENST00000393943.10, ENST00000428797.7, ENST00000437025.6, ENST00000636573.1, ENST00000638112.1, ENST00000638159.1 ) - Associated Disease
- Epilepsy, idiopathic generalized, susceptibility to, 13
- Source Database
- ClinVar
- Description
- NM_001127644.2(GABRA1):c.*470A>G AND Epilepsy, idiopathic generalized, susceptibility to, 13
- ClinVar Allele ID
- 302875
- ClinVar RefSeq Alternation Syntax
- NM_001127644.2:c.*470A>G
- ClinVar RefSeq Alternation Syntax
- NM_001127648.2:c.*470A>G
- ClinVar RefSeq Alternation Syntax
- NM_001127643.2:c.*470A>G
- ClinVar RefSeq Alternation Syntax
- NM_000806.5:c.*470A>G
- ClinVar RefSeq Alternation Syntax
- NM_001127645.2:c.*470A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000308049
- ClinVar Disease
- Epilepsy, idiopathic generalized, susceptibility to, 13
- Observed Origin Sample
- germline
Drugs