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Gene entry

GNE

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

Chromosome
9
Cytoband
9p13.3
Variants (rsID)
25

GNE is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9p13.3). Its official name is “glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase”. The reference table lists 25 variants (rsID) for this gene.

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Clinically classified variants

21 reference-table entries with clinical significance.

  • rs1043313Benignsingle nucleotide variantSialuria|Inclusion Body Myopathy, Recessive|GNE myopathy
  • rs145361930Benignsingle nucleotide variantGNE myopathy|Sialuria|Inclusion Body Myopathy, Recessive|Sialuria|GNE myopathy
  • rs121908627Conflicting interpretationssingle nucleotide variantGNE myopathy|GNE myopathy|Sialuria|Sialuria
  • rs138694766Conflicting interpretationssingle nucleotide variantSialuria|GNE myopathy|GNE myopathy
  • rs141814943Conflicting interpretationssingle nucleotide variantSialuria|GNE myopathy|GNE myopathy
  • rs199877522Conflicting interpretationssingle nucleotide variantGNE myopathy|GNE myopathy|Sialuria|Sialuria
  • rs200812140Conflicting interpretationssingle nucleotide variantSialuria|GNE myopathy|Sialuria|GNE myopathy
  • rs201025841Conflicting interpretationssingle nucleotide variantGNE myopathy|Inclusion Body Myopathy, Recessive|Sialuria|Sialuria|GNE myopathy
  • rs35638832Conflicting interpretationssingle nucleotide variantSialuria|Inclusion Body Myopathy, Recessive|GNE myopathy|Sialuria|GNE myopathy
  • rs1209266607Pathogenicsingle nucleotide variantGNE myopathy|Sialuria|GNE myopathy
  • rs121908625Pathogenicsingle nucleotide variantGNE myopathy
  • rs121908629Pathogenicsingle nucleotide variantGNE myopathy|Sialuria|GNE myopathy
  • rs121908632Pathogenicsingle nucleotide variantGNE myopathy|Sialuria|GNE myopathy
  • rs139425890Pathogenicsingle nucleotide variantGNE myopathy|GNE myopathy|Sialuria
  • rs28937594Pathogenicsingle nucleotide variantGNE myopathy|Sialuria|GNE myopathy|Sialuria
  • rs62541771Pathogenicsingle nucleotide variantGNE myopathy|GNE myopathy|Sialuria
  • rs748949603Pathogenicsingle nucleotide variantGNE myopathy|Sialuria|GNE myopathy
  • rs779694939Pathogenicsingle nucleotide variantGNE myopathy|Sialuria|GNE myopathy
  • rs886044449PathogenicDeletionGNE myopathy|Sialuria|GNE myopathy
  • rs121908631Uncertain significancesingle nucleotide variantGNE myopathy
  • rs201216576Uncertain significancesingle nucleotide variantSialuria|GNE myopathy|GNE myopathy

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.