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Gene entry

PHKG2

phosphorylase kinase catalytic subunit gamma 2

Chromosome
16
Cytoband
16p11.2
Variants (rsID)
8

PHKG2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p11.2). Its official name is “phosphorylase kinase catalytic subunit gamma 2”. The reference table lists 8 variants (rsID) for this gene.

Clinically classified variants

5 reference-table entries with clinical significance.

  • rs56207641Benignsingle nucleotide variantGlycogen storage disease IXc
  • rs138416154Conflicting interpretationssingle nucleotide variantGlycogen storage disease IXc
  • rs187710792Conflicting interpretationssingle nucleotide variantGlycogen storage disease IXc
  • rs61731628Conflicting interpretationssingle nucleotide variantGlycogen storage disease IXc
  • rs572115942Pathogenicsingle nucleotide variantMauriac syndrome

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.