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
    2
    1. ClingenBaseline 23 Oct 2026
      distinct mutant IDUA alleles

      Case#: Patient 79, Turkey

      DiseaseAssertion: N/A

      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.1727+6T>A

      Variant1ClinVarID: 2203499

      Variant1CAID: CA2580070698

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 ClinVarID:2203499 CAID:CA2580070698 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 22 Oct 2026
      distinct mutant IDUA alleles

      Case#: Patient 91, Turkey

      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.1727+6T>A

      Variant1ClinVarID: 2203499

      Variant1CAID: CA2580070698

      Variant2: c.208C>T (p.Q70X)

      Variant2ClinVarID: 11909

      Variant2CAID: CA204563

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo ClinVarID:2203499 CAID:CA2580070698 ClinVarID:11909 CAID:CA204563 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/21394825/