{{Rsnum
|rsid=387907312
|Chromosome=1
|position=42929918
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SLC2A1
|Gene_s=SLC2A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=1
|CLNACC=RCV000030840.26
|CLNALLE=1
|CLNDBN=Choreoathetosis/spasticity, episodic
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C1832855:601042
|CLNHGVS=NC_000001.11:g.42929918G>A
|CLNSIG=5
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_006516.2:c.634C>T; 138140.0018
|Disease=Choreoathetosis/spasticity
|FwdALT=T
|FwdREF=C
|REF=G
|RSPOS=42929918
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;NSM;REF;ASP;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000a05000002110100
|WGT=1
|dbSNPBuildID=137
|rsid=387907312
|GENEINFO=SLC2A1:6513
|GENE_ID=6513
|GENE_NAME=SLC2A1
|CLNORIGIN=1
}}