Annotation Detail
Information
- Associated Genes
- SLC2A1
- Associated Variants
-
SLC2A1 p.Lys256Val (p.K256V)
(
ENST00000674765.1,
ENST00000426263.10 )
SLC2A1 p.Lys256Val (p.K256V) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg468Trp (p.R468W) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg126Leu (p.R126L) ( ENST00000674765.1, ENST00000426263.10 )
SLC2A1 p.Arg126His (p.R126H) ( ENST00000674765.1, ENST00000426263.10 )
SLC2A1 p.Arg468Trp (p.R468W) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg126Leu (p.R126L) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg126His (p.R126H) ( ENST00000426263.10, ENST00000674765.1 ) - Associated Disease
- GLUT1 deficiency syndrome 1, autosomal recessive
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs