Annotation Detail
Information
- Associated Genes
- SLC2A1
- Associated Variants
-
SLC2A1 p.Asn411Ser (p.N411S)
(
ENST00000674765.1,
ENST00000426263.10 )
SLC2A1 p.Asn411Ser (p.N411S) ( ENST00000426263.10, ENST00000674765.1 ) - Associated Disease
- Epilepsy, idiopathic generalized, susceptibility to, 12
- Source Database
- ClinVar
- Description
- NM_006516.4(SLC2A1):c.1232A>G (p.Asn411Ser) AND Epilepsy, idiopathic generalized, susceptibility to, 12
- ClinVar Allele ID
- 102598
- ClinVar RefSeq Alternation Syntax
- NM_006516.4:c.1232A>G
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2012-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000082869
- ClinVar Disease
- Epilepsy, idiopathic generalized, susceptibility to, 12
- Observed Origin Sample
- germline
- Pubmed
- 23280796
Drugs