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.
