Gene entry
PDHA1
pyruvate dehydrogenase E1 subunit alpha 1
- Chromosome
- X
- Cytoband
- Xp22.12
- Variants (rsID)
- 15
PDHA1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp22.12). Its official name is “pyruvate dehydrogenase E1 subunit alpha 1”. The reference table lists 15 variants (rsID) for this gene.
Clinically classified variants
12 reference-table entries with clinical significance.
- rs150318528Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Pyruvate dehydrogenase E1-alpha deficiency
- rs202166915Benignsingle nucleotide variantInborn genetic diseases|Pyruvate dehydrogenase E1-alpha deficiency
- rs2229137Benignsingle nucleotide variantPyruvate dehydrogenase E1-alpha deficiency|History of neurodevelopmental disorder|Pyruvate dehydrogenase complex deficiency
- rs794727621Conflicting interpretationssingle nucleotide variant
- rs137853256Likely pathogenicsingle nucleotide variantPyruvate dehydrogenase E1-alpha deficiency
- rs137853252Pathogenicsingle nucleotide variantPyruvate dehydrogenase E1-alpha deficiency|Inborn genetic diseases
- rs137853253Pathogenicsingle nucleotide variantPyruvate dehydrogenase E1-alpha deficiency
- rs137853255Pathogenicsingle nucleotide variantPyruvate dehydrogenase E1-alpha deficiency
- rs137853257Pathogenicsingle nucleotide variantPyruvate dehydrogenase E1-alpha deficiency
- rs137853258Pathogenicsingle nucleotide variantPyruvate dehydrogenase E1-alpha deficiency
- rs137853259Pathogenicsingle nucleotide variantPyruvate dehydrogenase E1-alpha deficiency
- rs199959402Pathogenicsingle nucleotide variantPyruvate dehydrogenase E1-alpha deficiency
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.