2 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles
    1
    1. ClingenBaseline 24 Oct 2026
      missense mutations

      Case#: Patient 16, Italy

      DiseaseAssertion: MPS1-H/S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1269C>A (p.S423R)

      Variant1ClinVarID: 856833

      Variant1CAID: CA91169964

      Variant2: c.562T>C (p.F188L)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355961777

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 ClinVarID:856833 CAID:CA91169964 CAID:CA355961777 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/21394825/
  3. www.sciencedirect.com www.sciencedirect.com
    First Three Years’ Experience of Mucopolysaccharidosis Type-I Newborn Screening in California
    1
    1. ClingenBaseline 23 Oct 2026
      Abnormal

      Case#: No additional case information provided

      DiseaseAssertion: MPSI-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: Abnormal

      CaseUrineGAGs: Abnormal

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.208C>T (p.Q70X)

      Variant1ClinVarID: 11909

      Variant1CAID: CA204563

      Variant2: c.1269C>A (p.S423R)

      Variant2ClinVarID: 856833

      Variant2CAID: CA91169964

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11909 CAID:CA204563 ClinVarID:856833 CAID:CA91169964 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    sciencedirect.com/science/article/pii/S0022347623005073