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Gene entry

B3GALNT2

beta-1,3-N-acetylgalactosaminyltransferase 2

Chromosome
1
Cytoband
1q42.3
Variants (rsID)
8

B3GALNT2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q42.3). Its official name is “beta-1,3-N-acetylgalactosaminyltransferase 2”. The reference table lists 8 variants (rsID) for this gene.

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Clinically classified variants

4 reference-table entries with clinical significance.

  • rs61742900Benignsingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • rs367543075PathogenicDuplicationMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • rs140708018Uncertain significancesingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • rs185213208Uncertain significancesingle nucleotide variantMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

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.