Annotation Detail
Information
- Associated Genes
- SLC2A1
- Associated Variants
-
SLC2A1 p.Val327GlyfsTer53 (p.V327Gfs*53)
(
ENST00000426263.10,
ENST00000674765.1 )
SLC2A1 p.Val327GlyfsTer53 (p.V327Gfs*53) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg458Trp (p.R458W) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg458= (p.R458=) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Asn411Ser (p.N411S) ( ENST00000674765.1, ENST00000426263.10 )
SLC2A1 p.Arg333Trp (p.R333W) ( ENST00000674765.1, ENST00000426263.10 )
SLC2A1 p.Gly314Ser (p.G314S) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg232Cys (p.R232C) ( ENST00000674765.1, ENST00000426263.10 )
SLC2A1 p.Arg223Pro (p.R223P) ( ENST00000674765.1, ENST00000426263.10 )
SLC2A1 p.Arg223Gln (p.R223Q) ( ENST00000674765.1, ENST00000426263.10 )
SLC2A1 p.Arg126Leu (p.R126L) ( ENST00000674765.1, ENST00000426263.10 )
SLC2A1 p.Arg126His (p.R126H) ( ENST00000674765.1, ENST00000426263.10 )
SLC2A1 p.Arg126Cys (p.R126C) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg458Trp (p.R458W) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg458= (p.R458=) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Asn411Ser (p.N411S) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg333Trp (p.R333W) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Gly314Ser (p.G314S) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg232Cys (p.R232C) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg223Pro (p.R223P) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg223Gln (p.R223Q) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg126Leu (p.R126L) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg126His (p.R126H) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg126Cys (p.R126C) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Gln304AlafsTer77 (p.Q304Afs*77)
SLC2A1 p.Gln304AlafsTer77 (p.Q304Afs*77) - Associated Disease
- Epilepsy, idiopathic generalized, susceptibility to, 12
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- NA
Drugs