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Gene entry

PGK1

phosphoglycerate kinase 1

Chromosome
X
Cytoband
Xq21.1
Variants (rsID)
18

PGK1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq21.1). Its official name is “phosphoglycerate kinase 1”. The reference table lists 18 variants (rsID) for this gene.

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Clinically classified variants

13 reference-table entries with clinical significance.

  • rs137852530Othersingle nucleotide variantPhosphoglycerate kinase electrophoretic variant PGK II
  • rs137852528Pathogenicsingle nucleotide variantGlycogen storage disease due to phosphoglycerate kinase 1 deficiency
  • rs137852529Pathogenicsingle nucleotide variantGlycogen storage disease due to phosphoglycerate kinase 1 deficiency
  • rs137852531Pathogenicsingle nucleotide variantGlycogen storage disease due to phosphoglycerate kinase 1 deficiency
  • rs137852532Pathogenicsingle nucleotide variantGlycogen storage disease due to phosphoglycerate kinase 1 deficiency
  • rs137852533Pathogenicsingle nucleotide variantGlycogen storage disease due to phosphoglycerate kinase 1 deficiency
  • rs137852535Pathogenicsingle nucleotide variantGlycogen storage disease due to phosphoglycerate kinase 1 deficiency
  • rs137852536Pathogenicsingle nucleotide variantGlycogen storage disease due to phosphoglycerate kinase 1 deficiency
  • rs137852537Pathogenicsingle nucleotide variantGlycogen storage disease due to phosphoglycerate kinase 1 deficiency
  • rs137852538Pathogenicsingle nucleotide variantGlycogen storage disease due to phosphoglycerate kinase 1 deficiency
  • rs137852539Pathogenicsingle nucleotide variantGlycogen storage disease due to phosphoglycerate kinase 1 deficiency
  • rs431905503Pathogenicsingle nucleotide variantGlycogen storage disease due to phosphoglycerate kinase 1 deficiency
  • rs137852534Uncertain significancesingle nucleotide variantGlycogen storage disease due to phosphoglycerate kinase 1 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.