{{Rsnum
|rsid=397514573
|Chromosome=16
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=BCKDK
|position=31110247
|Gene_s=BCKDK
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=16
|CLNACC=RCV000032959.1
|CLNALLE=1
|CLNDBN=Branched-chain ketoacid dehydrogenase kinase deficiency
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=CN160491:614923
|CLNHGVS=NC_000016.9:g.31121568C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=614901.0001
|Disease=Branched-chain ketoacid dehydrogenase kinase deficiency
|FwdALT=T
|FwdREF=C
|GENEINFO=BCKDK:10295
|GENE_ID=10295
|GENE_NAME=BCKDK
|REF=C
|RSPOS=31121568
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397514573
}}