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Gene entry

POMGNT2

protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

Chromosome
3
Cytoband
3p22.1
Variants (rsID)
15

POMGNT2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p22.1). Its official name is “protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)”. The reference table lists 15 variants (rsID) for this gene.

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Clinically classified variants

10 reference-table entries with clinical significance.

  • rs147175064Benignsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
  • rs149948290Benignsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
  • rs604033Benignsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8|Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
  • rs140389725Conflicting interpretationssingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
  • rs138980930Likely benignsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
  • rs138480528Uncertain significancesingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
  • rs139204684Uncertain significancesingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
  • rs144487961Uncertain significancesingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
  • rs200080447Uncertain significancesingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
  • rs201114442Uncertain significancesingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8

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.