Annotation Detail
Information
- Associated Genes
- SLC2A1
- Associated Variants
-
SLC2A1 p.Ser95Ile (p.S95I)
(
ENST00000674765.1,
ENST00000426263.10 )
SLC2A1 p.Ser95Ile (p.S95I) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Gly314Ser (p.G314S) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Ala275Thr (p.A275T) ( ENST00000674765.1, ENST00000426263.10 )
SLC2A1 p.Arg126Cys (p.R126C) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg93Trp (p.R93W) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg92Trp (p.R92W) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg92= (p.R92=) ( ENST00000674765.1, ENST00000426263.10 )
SLC2A1 p.Asn34Ile (p.N34I) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Gly314Ser (p.G314S) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Ala275Thr (p.A275T) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg126Cys (p.R126C) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg93Trp (p.R93W) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg92Trp (p.R92W) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg92= (p.R92=) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Asn34Ile (p.N34I) ( ENST00000426263.10, ENST00000674765.1 ) - Associated Disease
- DYSTONIA 18 (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.480814325616241
- Year of publication
- NA
Drugs