Gene entry
PKLR
pyruvate kinase L/R
- Chromosome
- 1
- Cytoband
- 1q22
- Variants (rsID)
- 9
PKLR is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q22). Its official name is “pyruvate kinase L/R”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs113403872Pathogenicsingle nucleotide variantPyruvate kinase deficiency of red cells
- rs116100695Pathogenicsingle nucleotide variantPyruvate kinase deficiency of red cells|Pyruvate kinase deficiency of red cells|Pyruvate kinase hyperactivity|Pyruvate kinase hyperactivity|See cases
- rs118204085Pathogenicsingle nucleotide variantPyruvate kinase deficiency of red cells
- rs118204087Pathogenicsingle nucleotide variantPyruvate kinase hyperactivity
- rs201953584Pathogenicsingle nucleotide variantPyruvate kinase deficiency of red cells|Pyruvate kinase deficiency of red cells|Pyruvate kinase hyperactivity
- rs149946271Uncertain significancesingle nucleotide variantPyruvate kinase deficiency of red cells
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.