1 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms
    1
    1. ClingenBaseline 26 Oct 2026
      T141S in exon 4, and IVS2+6c>t

      Case#: Patient 3, Egyptian, female, 3 years old

      DiseaseAssertion: MPS1-H

      FamilyInfo: Parents were nonconsanguineous

      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.421A>T (p.T141S)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355961378

      Variant2: c.299+6C>T (in the paper the variant is labeled as c.IVS2+6C>T which is old nomenclature)

      Variant2ClinVarID: 92640

      Variant2CAID: CA145880

      AdditionalVariants: A8A, A20A, N297N, IVS11 (3318)C>A, IVS10 (3122)T>C - these are not the current nomenclatures for these variants but they are identified as polymorphisms in the article

      ParentalGenotype: All mutations were confirmed in the parental DNA

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo CAID:CA355961378 ClinVarID:92640 CAID:CA145880 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/19839758/