Annotation Detail
Information
- Associated Genes
- SLC2A1
- Associated Variants
-
SLC2A1 p.Trp363Ter (p.W363*)
(
ENST00000674765.1,
ENST00000426263.10 )
SLC2A1 p.Val327GlyfsTer53 (p.V327Gfs*53) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Lys7_Thr9del (p.K7_T9del) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Trp363Ter (p.W363*) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Val327GlyfsTer53 (p.V327Gfs*53) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Lys7_Thr9del (p.K7_T9del) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Lys456Ter (p.K456*) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Tyr449Ter (p.Y449*) ( ENST00000674765.1, ENST00000426263.10 )
SLC2A1 p.Tyr432= (p.Y432=) ( ENST00000674765.1, ENST00000426263.10 )
SLC2A1 p.Arg333Trp (p.R333W) ( ENST00000674765.1, ENST00000426263.10 )
SLC2A1 p.Gly314Ser (p.G314S) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Thr295Met (p.T295M) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Gln283Ter (p.Q283*) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Ala275Thr (p.A275T) ( ENST00000674765.1, ENST00000426263.10 )
SLC2A1 p.Gln250Ter (p.Q250*) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Gln242Ter (p.Q242*) ( ENST00000426263.10, ENST00000674765.1 )
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.Gly91Asp (p.G91D) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Asn34Asp (p.N34D) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Lys456Ter (p.K456*) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Tyr449Ter (p.Y449*) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Tyr432= (p.Y432=) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg333Trp (p.R333W) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Gly314Ser (p.G314S) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Thr295Met (p.T295M) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Gln283Ter (p.Q283*) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Ala275Thr (p.A275T) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Gln250Ter (p.Q250*) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Gln242Ter (p.Q242*) ( 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.Gly91Asp (p.G91D) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Asn34Asp (p.N34D) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Gln304AlafsTer77 (p.Q304Afs*77)
SLC2A1 p.Gln304AlafsTer77 (p.Q304Afs*77) - Associated Disease
- GLUT1 deficiency syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.487328930546168
- Year of publication
- NA
Drugs