2 Matching Annotations
  1. Last 7 days
  2. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I
    2
    1. ClingenBaseline 23 Oct 2026
      c.1871A > T

      Case#: No additional case information provided

      DiseaseAssertion: MPSI-H/S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.4 umol/g hr, reference range 10–50 umol/g hr.

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1871A>T (p.D624V)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355965955

      Variant2: c.17_24dupCCCGCGCC (p.A9PfsTer102)

      Variant2ClinVarID: N/A

      Variant2CAID: CA645372294

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 CAID:CA355965955 CAID:CA645372294 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 22 Oct 2026
      c.17_24dupCCCGCGCC

      Case#: No additional case information provided

      DiseaseAssertion: MPSI-H/S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.4 umol/g hr, reference range 10–50 umol/g hr.

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.17_24dupCCCGCGCC (p.Ala9ProfsTer102)

      Variant1ClinVarID: N/A

      Variant1CAID: CA645372294

      Variant2: c.1871A>T (p.D624V)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355965955

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 CAID:CA645372294 CAID:CA355965955 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1002/humu.23301