{{Rsnum
|rsid=80359816
|Chromosome=1
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=SLC2A1
|position=42930765
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SLC2A1
}}{{omim
|id=138140
|rsnum=80359816
|variant=0007
}}{{ClinVar
|rsid=80359816
|Reversed=1
|FwdREF=G
|FwdALT=A,T
|REF=C
|ALT=A,T
|RSPOS=42930765
|CHROM=1
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050168000a05000002110100
|GENEINFO=SLC2A1:6513
|GENE_NAME=SLC2A1
|GENE_ID=6513
|WGT=1
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000001.11:g.42930765C>A; NC_000001.11:g.42930765C>T
|CLNSRC=ClinVar; OMIM Allelic Variant; Emory University
|CLNORIGIN=1
|CLNSRCID=NM_006516.2:c.377G>T; 138140.0005; NM_006516.2:c.377G>A; 8829; 138140.0007
|CLNSIG=5
|CLNCUI=C1847501
|CLNDBN=Glut1 deficiency syndrome 1, autosomal recessive; Glucose transporter type 1 deficiency syndrome; not provided
|Disease=Glut1 deficiency syndrome 1; Glucose transporter type 1 deficiency syndrome; not provided
|CLNACC=RCV000017489.24; RCV000017491.26; RCV000081432.1
|Tags=RV;PM;PMC;SLO;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1430:C1847501:606777:ORPHA71277
}}{{PMID Auto
|PMID=10980529
|Title=Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.
}}

{{PMID Auto
|PMID=15622525
|Title=Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
}}

{{PMID Auto
|PMID=11603379
|Title=Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.
}}