Gene entry
PHKB
phosphorylase kinase regulatory subunit beta
- Chromosome
- 16
- Cytoband
- 16q12.1
- Variants (rsID)
- 42
PHKB is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16q12.1). Its official name is “phosphorylase kinase regulatory subunit beta”. The reference table lists 42 variants (rsID) for this gene.
Clinically classified variants
19 reference-table entries with clinical significance.
- rs12918964Benignsingle nucleotide variantGlycogen storage disease IXb
- rs151155518Benignsingle nucleotide variantGlycogen storage disease IXb
- rs16945474Benignsingle nucleotide variantGlycogen storage disease IXb
- rs185628131Benignsingle nucleotide variantGlycogen storage disease IXb
- rs28691569Benignsingle nucleotide variantGlycogen storage disease IXb
- rs34717357Benignsingle nucleotide variantGlycogen storage disease IXb
- rs56257827Benignsingle nucleotide variantGlycogen storage disease IXb
- rs9934849Benignsingle nucleotide variantGlycogen storage disease IXb
- rs111970242Conflicting interpretationssingle nucleotide variantGlycogen storage disease IXb
- rs139431568Conflicting interpretationssingle nucleotide variantGlycogen storage disease IXb
- rs142381554Conflicting interpretationssingle nucleotide variantGlycogen storage disease IXb
- rs144211929Conflicting interpretationssingle nucleotide variantGlycogen storage disease IXb
- rs144486825Conflicting interpretationssingle nucleotide variantGlycogen storage disease IXb
- rs200274360Conflicting interpretationssingle nucleotide variantGlycogen storage disease IXb
- rs201995780Conflicting interpretationssingle nucleotide variantGlycogen storage disease IXb
- rs117861728Likely benignsingle nucleotide variantGlycogen storage disease IXb
- rs202167409Likely benignsingle nucleotide variantGlycogen storage disease IXb
- rs199948078Othersingle nucleotide variant
- rs121918022Uncertain significancesingle nucleotide variantGlycogen storage disease IXb
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.
