Annotation Detail
Information
- Associated Genes
- SLC2A1
- Associated Variants
-
SLC2A1 p.Arg126Cys (p.R126C)
(
ENST00000426263.10,
ENST00000674765.1 )
SLC2A1 p.Arg126Cys (p.R126C) ( ENST00000426263.10, ENST00000674765.1 ) - Associated Disease
- GLUT1 deficiency syndrome
- Source Database
- DisGeNET
- Description
- Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene.
- Pubmed
- 21546317
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.487328930546168
- Year of publication
- 2011
Drugs