{{Rsnum
|rsid=387906936
|Chromosome=7
|position=144682975
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=TPK1
|Gene_s=TPK1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=7
|CLNACC=RCV000023533.1
|CLNALLE=1
|CLNDBN=THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C3280866:614458:293955
|CLNHGVS=NC_000007.13:g.144380068A>G
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=606370.0003
|Disease=THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
|FwdALT=C
|FwdREF=T
|REF=A
|RSPOS=144380068
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906936
|GENEINFO=TPK1:27010
|GENE_ID=27010
|GENE_NAME=TPK1
}}