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Gene entry

HGSNAT

heparan-alpha-glucosaminide N-acetyltransferase

Chromosome
8
Cytoband
8p11.21-p11.1
Variants (rsID)
18

HGSNAT is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8p11.21-p11.1). Its official name is “heparan-alpha-glucosaminide N-acetyltransferase”. The reference table lists 18 variants (rsID) for this gene.

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Clinically classified variants

14 reference-table entries with clinical significance.

  • rs148632988Benignsingle nucleotide variantMucopolysaccharidosis, MPS-III-C|Mucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73
  • rs112029032Conflicting interpretationssingle nucleotide variantMucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73|Retinal dystrophy|Retinitis pigmentosa|Retinitis pigmentosa 73|Mucopolysaccharidosis, MPS-III-C
  • rs192857413Conflicting interpretationssingle nucleotide variantMucopolysaccharidosis, MPS-III-C|Mucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73|Intellectual disability
  • rs121908282Likely pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-C|Retinal dystrophy|Mucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73
  • rs121908285Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-C|Mucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73|Mucopolysaccharidosis
  • rs121908286Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73|Mucopolysaccharidosis, MPS-III-C
  • rs1447092074Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-C|Mucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73
  • rs193066451Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-C|Sanfilippo syndrome|Mucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73
  • rs398124544Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-C|Mucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73|Retinal dystrophy|Sanfilippo syndrome|Retinitis pigmentosa 73
  • rs483352895PathogenicDuplicationMucopolysaccharidosis, MPS-III-C
  • rs483352896Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-C|Sanfilippo syndrome|Mucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73
  • rs483352908Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-C|Mucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73|Retinal dystrophy|Sanfilippo syndrome
  • rs756310864Pathogenicsingle nucleotide variantRetinitis pigmentosa 73|Mucopolysaccharidosis, MPS-III-C|Retinal dystrophy|Mucopolysaccharidosis, MPS-III-C
  • rs775078211Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-III-C|Sanfilippo syndrome|Mucopolysaccharidosis, MPS-III-C|Retinitis pigmentosa 73

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.