Gene entry
PCK1
phosphoenolpyruvate carboxykinase 1
- Chromosome
- 20
- Cytoband
- 20q13.31
- Variants (rsID)
- 12
PCK1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20q13.31). Its official name is “phosphoenolpyruvate carboxykinase 1”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs11552145Benignsingle nucleotide variantPhosphoenolpyruvate carboxykinase deficiency, cytosolic
- rs1804160Benignsingle nucleotide variantPhosphoenolpyruvate carboxykinase deficiency, cytosolic
- rs8192708Benignsingle nucleotide variantPhosphoenolpyruvate carboxykinase deficiency, cytosolic
- rs201186470Conflicting interpretationssingle nucleotide variantPhosphoenolpyruvate carboxykinase deficiency, cytosolic
- rs28383586Likely benignsingle nucleotide variantPhosphoenolpyruvate carboxykinase deficiency, cytosolic
- rs61760967Uncertain significancesingle nucleotide variantPhosphoenolpyruvate carboxykinase deficiency, cytosolic
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.