Gene entry
PC
pyruvate carboxylase
- Chromosome
- 11
- Cytoband
- 11q13.2
- Variants (rsID)
- 41
PC is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q13.2). Its official name is “pyruvate carboxylase”. The reference table lists 41 variants (rsID) for this gene.
Clinically classified variants
13 reference-table entries with clinical significance.
- rs117711892Benignsingle nucleotide variantPyruvate carboxylase deficiency
- rs139074169Benignsingle nucleotide variantPyruvate carboxylase deficiency
- rs148281644Benignsingle nucleotide variantPyruvate carboxylase deficiency
- rs144087445Conflicting interpretationssingle nucleotide variantPyruvate carboxylase deficiency
- rs147945506Conflicting interpretationssingle nucleotide variantPyruvate carboxylase deficiency
- rs201796252Conflicting interpretationssingle nucleotide variantPyruvate carboxylase deficiency
- rs45501894Conflicting interpretationssingle nucleotide variantPyruvate carboxylase deficiency
- rs61749179Conflicting interpretationssingle nucleotide variantPyruvate carboxylase deficiency
- rs755170894Conflicting interpretationsDeletionPyruvate carboxylase deficiency
- rs113994142Likely pathogenicsingle nucleotide variantPyruvate carboxylase deficiency
- rs28940589Pathogenicsingle nucleotide variantPyruvate carboxylase deficiency
- rs28940591Pathogenicsingle nucleotide variantPyruvate carboxylase deficiency
- rs375528540Uncertain significancesingle nucleotide variantPyruvate carboxylase 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.