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Gene entry

PYGM

glycogen phosphorylase, muscle associated

Chromosome
11
Cytoband
11q13.1
Variants (rsID)
29

PYGM is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q13.1). Its official name is “glycogen phosphorylase, muscle associated”. The reference table lists 29 variants (rsID) for this gene.

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Clinically classified variants

26 reference-table entries with clinical significance.

  • rs113806080Benignsingle nucleotide variantGlycogen storage disease, type V
  • rs589691Benignsingle nucleotide variantGlycogen storage disease, type V
  • rs114468011Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type V
  • rs114742918Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type V
  • rs116135678Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type V|Toe walking
  • rs116180923Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type V
  • rs116315896Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type V
  • rs139726186Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type V
  • rs141959242Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type V
  • rs142054672Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type V
  • rs142234258Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type V|Toe walking
  • rs143217651Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type V
  • rs144229867Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type V
  • rs201711087Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type V
  • rs368602234Conflicting interpretationsDuplicationGlycogen storage disease, type V
  • rs764313717Conflicting interpretationssingle nucleotide variantMcArdle disease, mild|Glycogen storage disease, type V
  • rs116987552Pathogenicsingle nucleotide variantGlycogen storage disease, type V|Inborn genetic diseases|Muscular atrophy|See cases
  • rs119103251Pathogenicsingle nucleotide variantGlycogen storage disease, type V
  • rs119103252Pathogenicsingle nucleotide variantGlycogen storage disease, type V
  • rs119103253Pathogenicsingle nucleotide variantGlycogen storage disease, type V
  • rs119103258Pathogenicsingle nucleotide variantGlycogen storage disease, type V
  • rs119103259Pathogenicsingle nucleotide variantGlycogen storage disease, type V|See cases
  • rs144081869Pathogenicsingle nucleotide variantGlycogen storage disease, type V
  • rs771427957Pathogenicsingle nucleotide variantInborn genetic diseases|Glycogen storage disease, type V
  • rs115690781Uncertain significancesingle nucleotide variantGlycogen storage disease, type V
  • rs200038732Uncertain significancesingle nucleotide variantGlycogen storage disease, type V

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.