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Gene entry

GNPTAB

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

Chromosome
12
Cytoband
12q23.2
Variants (rsID)
26

GNPTAB is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q23.2). Its official name is “N-acetylglucosamine-1-phosphate transferase subunits alpha and beta”. The reference table lists 26 variants (rsID) for this gene.

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Clinically classified variants

11 reference-table entries with clinical significance.

  • rs34083392Benignsingle nucleotide variantPseudo-Hurler polydystrophy|Mucolipidosis type II|Mucolipidosis type II|Pseudo-Hurler polydystrophy
  • rs7958709Benignsingle nucleotide variantMucolipidosis type II|Pseudo-Hurler polydystrophy|Mucolipidosis type II|Pseudo-Hurler polydystrophy
  • rs112543062Conflicting interpretationssingle nucleotide variantMucolipidosis type II|Pseudo-Hurler polydystrophy
  • rs141927805Conflicting interpretationssingle nucleotide variantMucolipidosis type II|Pseudo-Hurler polydystrophy|Pseudo-Hurler polydystrophy|Mucolipidosis type II
  • rs281865007Likely pathogenicsingle nucleotide variantMucolipidosis type II|Mucolipidosis type II|Pseudo-Hurler polydystrophy
  • rs137852897Pathogenicsingle nucleotide variantPseudo-Hurler polydystrophy|Mucolipidosis type II|Pseudo-Hurler polydystrophy|Mucolipidosis type II|Mucolipidosis
  • rs281864964PathogenicDuplicationMucolipidosis type II|Mucolipidosis|Mucolipidosis type II|Pseudo-Hurler polydystrophy
  • rs281864969Pathogenicsingle nucleotide variantPseudo-Hurler polydystrophy|Mucolipidosis type II|Pseudo-Hurler polydystrophy|Mucolipidosis type II
  • rs281864980Pathogenicsingle nucleotide variantPseudo-Hurler polydystrophy|Juvenile osteochondrosis of spine|Legg-Calve-Perthes disease|Mucolipidosis type II|Pseudo-Hurler polydystrophy
  • rs34002892PathogenicMicrosatelliteMucolipidosis type II|Pseudo-Hurler polydystrophy|GNPTAB-Related Disorders|Inborn genetic diseases|Pseudo-Hurler polydystrophy|Mucolipidosis type II
  • rs192687061Uncertain significancesingle nucleotide variantMucolipidosis type II|Pseudo-Hurler polydystrophy

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.