Annotation Detail
Information
- Associated Genes
- SLC2A1
- Associated Variants
-
SLC2A1 p.Arg212Cys (p.R212C)
(
ENST00000674765.1,
ENST00000426263.10 )
SLC2A1 p.Arg126Cys (p.R126C) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg212Cys (p.R212C) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg126Cys (p.R126C) ( ENST00000426263.10, ENST00000674765.1 ) - Associated Disease
- CHOREOATHETOSIS/SPASTICITY, EPISODIC
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs