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Gene entry

IDUA

alpha-L-iduronidase

Chromosome
4
Cytoband
4p16.3
Variants (rsID)
25

IDUA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4p16.3). Its official name is “alpha-L-iduronidase”. The reference table lists 25 variants (rsID) for this gene.

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Clinically classified variants

17 reference-table entries with clinical significance.

  • rs114806891Benignsingle nucleotide variantMucopolysaccharidosis type 1|Mucopolysaccharidosis, MPS-I-H/S|Hurler syndrome|Mucopolysaccharidosis, MPS-I-S
  • rs183347428Benignsingle nucleotide variantMucopolysaccharidosis type 1
  • rs3755954Benignsingle nucleotide variantMucopolysaccharidosis type 1|Hurler syndrome|Mucopolysaccharidosis, MPS-I-H/S|Mucopolysaccharidosis, MPS-I-S
  • rs3755955Benignsingle nucleotide variantMucopolysaccharidosis type 1|Mucopolysaccharidosis, MPS-I-S|Mucopolysaccharidosis, MPS-I-H/S|Hurler syndrome
  • rs6815946Benignsingle nucleotide variantMucopolysaccharidosis type 1|Hurler syndrome|Mucopolysaccharidosis, MPS-I-H/S|Mucopolysaccharidosis, MPS-I-S
  • rs6831280Benignsingle nucleotide variantMucopolysaccharidosis type 1|Hurler syndrome
  • rs76722191Benignsingle nucleotide variantMucopolysaccharidosis type 1|Hurler syndrome
  • rs11934801Conflicting interpretationssingle nucleotide variantMucopolysaccharidosis type 1|Hurler syndrome
  • rs121965020Pathogenicsingle nucleotide variantHurler syndrome|Mucopolysaccharidosis, MPS-I-H/S|Mucopolysaccharidosis, MPS-I-S|Mucopolysaccharidosis type 1|Hurler syndrome|Mucopolysaccharidosis, MPS-I-H/S|Mucopolysaccharidosis, MPS-I-S|Interstitial pneumonitis
  • rs121965021Pathogenicsingle nucleotide variantHurler syndrome|Mucopolysaccharidosis type 1|Hurler syndrome|Mucopolysaccharidosis, MPS-I-H/S|Mucopolysaccharidosis, MPS-I-S|Inborn genetic diseases
  • rs121965029Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-I-H/S|Hurler syndrome|Mucopolysaccharidosis type 1
  • rs121965033Pathogenicsingle nucleotide variantMucopolysaccharidosis, MPS-I-H/S|Hurler syndrome|Mucopolysaccharidosis type 1
  • rs199801029Pathogenicsingle nucleotide variantHurler syndrome|Mucopolysaccharidosis type 1
  • rs368454909Pathogenicsingle nucleotide variantMucopolysaccharidosis type 1
  • rs786200915PathogenicDuplicationHurler syndrome|Mucopolysaccharidosis type 1
  • rs794726877Pathogenicsingle nucleotide variantHurler syndrome|Mucopolysaccharidosis type 1
  • rs187833337Uncertain significancesingle nucleotide variantMucopolysaccharidosis type 1

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.