Gene entry
PHKA2
phosphorylase kinase regulatory subunit alpha 2
- Chromosome
- X
- Cytoband
- Xp22.13
- Variants (rsID)
- 18
PHKA2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp22.13). Its official name is “phosphorylase kinase regulatory subunit alpha 2”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs142034171Benignsingle nucleotide variantGlycogen storage disease IXa1
- rs16980929Benignsingle nucleotide variantGlycogen storage disease IXa1
- rs137852290Likely pathogenicsingle nucleotide variantGlycogen storage disease IXa2|Glycogen storage disease IXa1
- rs137852293Likely pathogenicsingle nucleotide variantGlycogen storage disease IXa2|Glycogen storage disease IXa1
- rs137852294Likely pathogenicsingle nucleotide variantGlycogen storage disease IXa2|Glycogen storage disease IXa1
- rs137852292Pathogenicsingle nucleotide variantGlycogen storage disease IXa2|Glycogen storage disease IXa1
- rs137852295Pathogenicsingle nucleotide variantGlycogen storage disease IXa2|Glycogen storage disease IXa1
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.