Gene entry
PGAM2
phosphoglycerate mutase 2
- Chromosome
- 7
- Cytoband
- 7p13
- Variants (rsID)
- 8
PGAM2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7p13). Its official name is “phosphoglycerate mutase 2”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs145985559Benignsingle nucleotide variantGlycogen storage disease type X
- rs61756062Benignsingle nucleotide variantGlycogen storage disease type X
- rs142209394Conflicting interpretationssingle nucleotide variantGlycogen storage disease type X
- rs143809043Conflicting interpretationssingle nucleotide variantGlycogen storage disease type X
- rs77938727Conflicting interpretationssingle nucleotide variantGlycogen storage disease type X
- rs10250779Pathogenicsingle nucleotide variantGlycogen storage disease type X
- rs104894030Pathogenicsingle nucleotide variantGlycogen storage disease type X
- rs104894034Uncertain significancesingle nucleotide variantGlycogen storage disease type X
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.