1 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
    1
    1. ClingenBaseline 21 Oct 2026
      c.1187T > G

      Case#: No additional case information provided

      DiseaseAssertion: N/A

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.09 umol/g hr, reference range 10–50 umol/g hr.

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1187T>G (p.L396R)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355963497

      Variant2: c.1187T>G (p.L396R)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355963497

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 CAID:CA355963497 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1002/humu.23301