{{Rsnum
|rsid=386834233
|Chromosome=6
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=BCKDHB
|position=80201023
|Gene_s=BCKDHB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=6
|CLNACC=RCV000056009.1; RCV000082770.1
|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.80910740G>A
|CLNSIG=5
|CLNSRC=Emory University; GeneReviews
|CLNSRCID=1450; NBK1319
|Disease=Maple syrup urine disease; not provided
|FwdALT=A
|FwdREF=G
|GENEINFO=BCKDHB:594
|GENE_ID=594
|GENE_NAME=BCKDHB
|REF=G
|RSPOS=80910740
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050160000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=386834233
}}