{{Rsnum
|rsid=137852870
|Chromosome=19
|Orientation=plus
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene=BCKDHA
|position=41424582
|Gene_s=BCKDHA
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=608348
|variant=0001
|rsnum=137852870
}}{{ClinVar
|rsid=137852870
|Reversed=0
|FwdREF=T
|FwdALT=A
|REF=T
|ALT=A
|RSPOS=41930487
|CHROM=19
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050360000000000002110100
|GENEINFO=BCKDHA:593
|GENE_NAME=BCKDHA
|GENE_ID=593
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.41930487T>A
|CLNSRC=Emory University; GTR; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=1421; GTR000321630; NBK1319; 608348.0001
|CLNSIG=5
|CLNCUI=CN068545
|CLNDBN=Maple syrup urine disease type 1A; Maple syrup urine disease; not provided
|Disease=Maple syrup urine disease type 1A; Maple syrup urine disease; not provided
|CLNACC=RCV000002473.1; RCV000055825.1; RCV000079229.1
|Tags=PM;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=MedGen; GeneReviews:MedGen:OMIM:Orphanet:Orphanet:Orphanet:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=C1855369; NBK1319:C0024776:248600:268145:268162:268173:268184:511:27718001
}}