{{Rsnum
|rsid=79761867
|Chromosome=6
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=BCKDHB
|position=80168945
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=BCKDHB
}}{{omim
|id=248611
|rsnum=79761867
|variant=0002
}}{{ClinVar
|rsid=79761867
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=80878662
|CHROM=6
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050360000000040402110100
|GENEINFO=BCKDHB:594
|GENE_NAME=BCKDHB
|GENE_ID=594
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000006.11:g.80878662G>C
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;S3D;SLO;VLD;HD;OTHERKG;LSD;OM
|CLNACC=RCV000012715.21; RCV000056008.1; RCV000082754.1
|CLNDBN=MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB; Maple syrup urine disease; not provided
|CLNSRC=Emory University; GeneReviews; OMIM Allelic Variant
|CLNSRCID=1461; NBK1319; 248611.0002
|Disease=MAPLE SYRUP URINE DISEASE; 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
}}