{{Rsnum
|rsid=80359818
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SLC2A1
|position=42930766
|Gene_s=SLC2A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=80359818
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=42930766
|CHROM=1
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050168000a05000002110100
|GENEINFO=SLC2A1:6513
|GENE_NAME=SLC2A1
|GENE_ID=6513
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.42930766G>A
|CLNSRC=ClinVar; Emory University; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_006516.2:c.376C>T; 11591; 138140.0014
|CLNSIG=5
|CLNCUI=C1847501
|CLNDBN=Glucose transporter type 1 deficiency syndrome; Dystonia 18; Choreoathetosis/spasticity, episodic; not provided
|Disease=Glucose transporter type 1 deficiency syndrome; Dystonia 18; Choreoathetosis/spasticity; not provided
|CLNACC=RCV000017498.22; RCV000030838.26; RCV000030839.26; RCV000081431.1
|Tags=RV;PM;PMC;SLO;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen:OMIM
|CLNDSDBID=NBK1430:C1847501:606777:ORPHA71277; NBK1430:C1842534:612126:ORPHA98811; C1832855:601042
}}{{PMID Auto
|PMID=15622525
|Title=Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
}}