{{Rsnum
|rsid=80359822
|Chromosome=1
|Orientation=minus
|geno1=(AA;AA)
|geno2=(AA;GT)
|geno3=(GT;GT)
|Gene=SLC2A1
|position=42929693
|Gene_s=SLC2A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=80359822
|Reversed=1
|FwdREF=AA
|FwdALT=GT
|REF=CTT
|ALT=CAC
|RSPOS=42929692
|CHROM=1
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050168000a05000002110800
|GENEINFO=SLC2A1:6513
|GENE_NAME=SLC2A1
|GENE_ID=6513
|WGT=1
|VC=MNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.42929693_42929694delTTinsAC
|CLNORIGIN=1
|CLNSIG=5
|Tags=RV;PM;PMC;SLO;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNACC=RCV000017488.28
|CLNDBN=Glut1 deficiency syndrome 1, autosomal recessive
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_006516.2:c.766_767delAAinsGT; 138140.0004
|Disease=Glut1 deficiency syndrome 1
}}{{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.
}}