{{Rsnum
|rsid=137853257
|Chromosome=X
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=PDHA1
|position=19344066
|Gene_s=PDHA1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=300502
|variant=0017
|rsnum=137853257
}}{{ClinVar
|rsid=137853257
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=19362184
|CHROM=X
|dbSNPBuildID=137
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=PDHA1:5160
|GENE_NAME=PDHA1
|GENE_ID=5160
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.19362184G>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=300502.0017
|CLNSIG=5
|CLNCUI=C1839414
|CLNDBN=Pyruvate dehydrogenase e1-alpha deficiency
|Disease=Pyruvate dehydrogenase e1-alpha deficiency
|CLNACC=RCV000011634.1
|Tags=PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen
|CLNDSDBID=C1839414
}}