Gene entry
PGM1
phosphoglucomutase 1
- Chromosome
- 1
- Cytoband
- 1p31.3
- Variants (rsID)
- 36
PGM1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p31.3). Its official name is “phosphoglucomutase 1”. The reference table lists 36 variants (rsID) for this gene.
Clinically classified variants
11 reference-table entries with clinical significance.
- rs1126728Benignsingle nucleotide variantCongenital disorder of glycosylation|PGM1-congenital disorder of glycosylation
- rs2269248Benignsingle nucleotide variant
- rs61765314Benignsingle nucleotide variantCongenital disorder of glycosylation|PGM1-congenital disorder of glycosylation
- rs72681118Benignsingle nucleotide variant
- rs77043134Benignsingle nucleotide variantPGM1-congenital disorder of glycosylation
- rs855313Benignsingle nucleotide variant
- rs141007881Conflicting interpretationssingle nucleotide variantPGM1-congenital disorder of glycosylation|Congenital disorder of glycosylation
- rs145807501Conflicting interpretationssingle nucleotide variantCongenital disorder of glycosylation|PGM1-congenital disorder of glycosylation
- rs541069522Conflicting interpretationssingle nucleotide variantPGM1-congenital disorder of glycosylation|Congenital disorder of glycosylation
- rs79011721Likely benignsingle nucleotide variant
- rs200237046Uncertain significancesingle nucleotide variantPGM1-congenital disorder of glycosylation|Congenital disorder of glycosylation
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.