Annotation Detail
Information
- Associated Genes
- SLC2A1
- Associated Variants
-
SLC2A1 p.Arg232Cys (p.R232C)
(
ENST00000674765.1,
ENST00000426263.10 )
SLC2A1 p.Arg232Cys (p.R232C) ( ENST00000426263.10, ENST00000674765.1 ) - Associated Disease
- Epilepsy, idiopathic generalized, susceptibility to, 12
- Source Database
- ClinVar
- Description
- NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys) AND Epilepsy, idiopathic generalized, susceptibility to, 12
- ClinVar Allele ID
- 45875
- ClinVar RefSeq Alternation Syntax
- NM_006516.4:c.694C>T
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2012-02-21
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000030841
- ClinVar Disease
- Epilepsy, idiopathic generalized, susceptibility to, 12
- Observed Origin Sample
- germline
- Pubmed
- 22282645
Drugs