{{Rsnum
|rsid = 28933391
|Gene = PDHB
|geno1 = (C;C)
|geno2 = (C;T)
|geno3 = (T;T)
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|Chromosome=3
|position=58428084
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=PDHB
}}{{omim
|desc=PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY
|id=179060
|rsnum=28933391
|variant=0002
}}

{{ClinVar
|rsid=28933391
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=58413811
|CHROM=3
|dbSNPBuildID=129
|SSR=0
|SAO=1
|VP=0x050260000000000402110100
|GENEINFO=PDHB:5162
|GENE_NAME=PDHB
|GENE_ID=5162
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.58413811G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=179060.0002
|CLNSIG=5
|CLNCUI=C1867399
|CLNDBN=Pyruvate dehydrogenase e1-beta deficiency
|Disease=Pyruvate dehydrogenase e1-beta deficiency
|CLNACC=RCV000014077.22
|Tags=RV;PM;S3D;HD;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C1867399:614111
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}