{{Rsnum
|rsid=121965004
|Chromosome=6
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=BCKDHB
|position=80169013
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=BCKDHB
}}{{omim
|id=248611
|rsnum=121965004
|variant=0003
}}{{ClinVar
|rsid=121965004
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=80878730
|CHROM=6
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=BCKDHB:594
|GENE_NAME=BCKDHB
|GENE_ID=594
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.80878730C>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNACC=RCV000012716.23
|CLNDBN=MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=248611.0003
|Disease=MAPLE SYRUP URINE DISEASE
}}