{{Rsnum
|rsid=386834234
|Chromosome=6
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=BCKDHB
|position=80343739
|Gene_s=BCKDHB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=6
|CLNACC=RCV000056007.1; RCV000082726.1
|CLNALLE=1
|CLNDBN=Maple syrup urine disease; not provided
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:Orphanet:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1319:C0024776:248600:268145:268162:268173:268184:511:27718001
|CLNHGVS=NC_000006.11:g.81053456G>T
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK1319
|Disease=Maple syrup urine disease; not provided
|FwdALT=T
|FwdREF=G
|GENEINFO=BCKDHB:594
|GENE_ID=594
|GENE_NAME=BCKDHB
|REF=G
|RSPOS=81053456
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050160000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=386834234
}}