2 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients
    1
    1. ClingenBaseline 23 Oct 2026
      1 insertion of 2 base pairs

      Case#: One patient from Egypt

      DiseaseAssertion: MPS1-H

      FamilyInfo: Consanguinity present in the family

      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.682insAC in paper but correct nomenclature is c.594_595insAC (p.Leu199ThrfsTer2)

      Variant1ClinVarID: N/A

      Variant1CAID: CA2586973525

      Variant2: c.682insAC in paper but correct nomenclature is c.594_595insAC (p.Leu199ThrfsTer2)

      Variant2ClinVarID: N/A

      Variant2CAID: CA2586973525

      AdditionalVariants: c.346G>A (p.G116R)

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:712837 CAID:CA2801880 CAID:CA2586973525 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/7951228/
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Insights into Mucopolysaccharidosis I from the structure and action of α-L-Iduronidase
    1
    1. ClingenBaseline 23 Oct 2026

      Case#: Variant not associated with a proband. Variant listed in supplementary materials in Supplementary Table 4

      DiseaseAssertion: Mucopolysaccharidosis type I, MPS I

      FamilyInfo: N/A

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: G116R

      Variant1ClinVarID: 712837

      Variant1CAID: CA2801880

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished: N/A

      Gene:IDUA SupplementalData CaseInfo DiseaseEntity:MPS1 ClinVarID:712837 CAID:CA2801880 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC4954775/