{{Rsnum
|rsid=387906998
|Chromosome=11
|position=34916699
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=PDHX
|Gene_s=APIP,PDHX
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=11
|CLNACC=RCV000023731.1
|CLNALLE=1
|CLNDBN=Pyruvate dehydrogenase e3-binding protein deficiency
|CLNDSDB=MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=C1855553:245349:255182:765
|CLNHGVS=NC_000011.9:g.34938246G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=608769.0010
|Disease=Pyruvate dehydrogenase e3-binding protein deficiency
|FwdALT=A
|FwdREF=G
|REF=G
|RSPOS=34938246
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906998
|GENEINFO=PDHX:8050; APIP:51074
|GENE_ID=8050; 51074
|GENE_NAME=PDHX; APIP
}}