Gene entry
PFKM
phosphofructokinase, muscle
- Chromosome
- 12
- Cytoband
- 12q13.11
- Variants (rsID)
- 17
PFKM is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q13.11). Its official name is “phosphofructokinase, muscle”. The reference table lists 17 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs11552507Benignsingle nucleotide variantGlycogen storage disease, type VII
- rs11609399Benignsingle nucleotide variantGlycogen storage disease, type VII
- rs202008060Benignsingle nucleotide variantGlycogen storage disease, type VII
- rs41291971Benignsingle nucleotide variantGlycogen storage disease, type VII
- rs144370737Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type VII
- rs376150217Conflicting interpretationssingle nucleotide variantGlycogen storage disease, type VII
- rs121918194Pathogenicsingle nucleotide variantGlycogen storage disease, type VII
- rs141570669Uncertain significancesingle nucleotide variantGlycogen storage disease, type VII
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.