Genetics University — Research, Education, Medical Genetics
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Gene entry

PHKA1

phosphorylase kinase regulatory subunit alpha 1

Chromosome
X
Cytoband
Xq13.1
Variants (rsID)
14

PHKA1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq13.1). Its official name is “phosphorylase kinase regulatory subunit alpha 1”. The reference table lists 14 variants (rsID) for this gene.

Clinically classified variants

2 reference-table entries with clinical significance.

  • rs201601894Benignsingle nucleotide variantGlycogen storage disease IXd
  • rs137852547Pathogenicsingle nucleotide variantGlycogen storage disease IXd

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.