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Gene entry

GLB1

galactosidase beta 1

Chromosome
3
Cytoband
3p22.3
Variants (rsID)
46

GLB1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p22.3). Its official name is “galactosidase beta 1”. The reference table lists 46 variants (rsID) for this gene.

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Clinically classified variants

17 reference-table entries with clinical significance.

  • rs34421970Benignsingle nucleotide variantMucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis type 2|GM1 gangliosidosis type 3|Infantile GM1 gangliosidosis|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis
  • rs35289681Benignsingle nucleotide variantMucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B
  • rs180869784Conflicting interpretationssingle nucleotide variantMucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis|GM1 gangliosidosis type 3|GM1 gangliosidosis type 2|Mucopolysaccharidosis, MPS-IV-B|Infantile GM1 gangliosidosis|Infantile GM1 gangliosidosis
  • rs202237232Conflicting interpretationssingle nucleotide variantGM1 gangliosidosis type 2|GM1 gangliosidosis type 3|Mucopolysaccharidosis, MPS-IV-B|Infantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis
  • rs72555358Conflicting interpretationssingle nucleotide variantInfantile GM1 gangliosidosis|GM1 gangliosidosis type 3|GM1 gangliosidosis type 2|Mucopolysaccharidosis, MPS-IV-B|Infantile GM1 gangliosidosis|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|Mucopolysaccharidosis, MPS-IV-B
  • rs72555360Conflicting interpretationssingle nucleotide variantGM1 gangliosidosis type 2|GM1 gangliosidosis|Infantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis type 3|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B
  • rs371546950Likely pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis
  • rs28934274Pathogenicsingle nucleotide variantInfantile GM1 gangliosidosis|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B
  • rs587776525PathogenicDuplicationInfantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis type 3|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B
  • rs72555362Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-IV-B
  • rs72555364Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-IV-B
  • rs72555366Pathogenicsingle nucleotide variantInfantile GM1 gangliosidosis|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis|GM1 gangliosidosis type 2|GM1 gangliosidosis type 3|Mucopolysaccharidosis, MPS-IV-B
  • rs72555368Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-IV-B|Infantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis type 3|GM1 gangliosidosis type 2|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis
  • rs72555370Pathogenicsingle nucleotide variantGM1 gangliosidosis type 2|Infantile GM1 gangliosidosis|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B
  • rs72555391Pathogenicsingle nucleotide variantInfantile GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B
  • rs72555392Pathogenicsingle nucleotide variantInfantile GM1 gangliosidosis|GM1-gangliosidosis, type I, with cardiac involvement|GM1 gangliosidosis type 2|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis type 3|GM1 gangliosidosis type 2|Infantile GM1 gangliosidosis|GM1 gangliosidosis type 3|Mucopolysaccharidosis, MPS-IV-B|GM1 gangliosidosis|GLB1-Related Disorders
  • rs72555371Uncertain significancesingle nucleotide variantGM1-gangliosidosis, type I, with cardiac involvement|GM1 gangliosidosis type 3|GM1 gangliosidosis type 2|Mucopolysaccharidosis, MPS-IV-B|Infantile GM1 gangliosidosis

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.