{{Rsnum
|rsid=387906935
|Chromosome=7
|position=144682946
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=TPK1
|Gene_s=TPK1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=7
|CLNACC=RCV000023531.1
|CLNALLE=1
|CLNDBN=THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C3280866:614458:293955
|CLNHGVS=NC_000007.13:g.144380039T>G
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=606370.0001
|Disease=THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
|FwdALT=C
|FwdREF=A
|REF=T
|RSPOS=144380039
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906935
|GENEINFO=TPK1:27010
|GENE_ID=27010
|GENE_NAME=TPK1
}}