{{Rsnum
|rsid=147210405
|Chromosome=16
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=BCKDK
|position=31110716
|Gene_s=BCKDK
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A,C
|CHROM=16
|CLNACC=RCV000032961.1
|CLNALLE=2
|CLNDBN=Branched-chain ketoacid dehydrogenase kinase deficiency
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=CN160491:614923
|CLNHGVS=NC_000016.9:g.31122037G>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=614901.0003
|Disease=Branched-chain ketoacid dehydrogenase kinase deficiency
|FwdALT=A,C
|FwdREF=G
|GENEINFO=BCKDK:10295
|GENE_ID=10295
|GENE_NAME=BCKDK
|REF=G
|RSPOS=31122037
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;S3D;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050260000000000002110100
|WGT=0
|dbSNPBuildID=134
|rsid=147210405
}}