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.
