{{Rsnum
|rsid=2229137
|Gene=PDHA1
|Chromosome=X
|position=19357664
|Orientation=plus
|GMAF=0.05865
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=PDHA1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 100.0 | 0.0 | 0.0
| HCB | 68.9 | 22.2 | 8.9
| JPT | 63.6 | 25.0 | 11.4
| YRI | 100.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 68.9 | 22.2 | 8.9
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}
{{omim
|id=300502
|rsnum=2229137
|variant=0015
}}{{ClinVar
|rsid=2229137
|Reversed=0
|FwdREF=A
|FwdALT=C
|REF=A
|ALT=C
|RSPOS=19375782
|CHROM=X
|GMAF=0.058469
|dbSNPBuildID=98
|SSR=0
|SAO=1
|VP=0x050360000000150517110101
|GENEINFO=PDHA1:5160
|GENE_NAME=PDHA1
|GENE_ID=5160
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.19375782A>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=300502.0015
|CLNSIG=5
|CLNCUI=C1839414
|CLNDBN=Pyruvate dehydrogenase e1-alpha deficiency
|Disease=Pyruvate dehydrogenase e1-alpha deficiency
|CLNACC=RCV000011632.3
|Tags=PM;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9414; 0.05865
|CLNDSDB=MedGen
|CLNDSDBID=C1839414
|COMMON=1
}}{{GET Evidence
|gene=PDHA1
|aa_change=Met282Leu
|aa_change_short=M282L
|impact=benign
|qualified_impact=Insufficiently evaluated benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2229137
|overall_frequency_n=11
|overall_frequency_d=8761
|overall_frequency=0.00125556
|n_genomes=4
|n_genomes_annotated=0
|n_haplomes=4
|n_articles=1
|n_articles_annotated=1
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.535
|genetests_testable=Y
|nblosum100=-3
|autoscore=4
|webscore=N
|n_web_uneval=2
|summary_short=Claimed to cause X-linked pyruvate dehydrogenase deficiency (causing early onset severe encephalopathy and lactic acidosis) -- unusually in a female carrier who was hypothesized to be symptomatic due to X inactivation of the other, functional copy of the gene. However, this variant is very common in east asian ethnicities, strongly contradicting a pathogenic hypothesis.
}}