2 Matching Annotations
  1. Last 7 days
  2. illiad.lib.unc.edu illiad.lib.unc.edu
    GTMB-2019-0022-ver9-Kamranjam_3P 515..522
    1
    1. ClingenBaseline 21 Oct 2026

      Case#: Patient 6, 5 years old, Iranian

      DiseaseAssertion: MPSI-H (Severe)

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.05 µmol/g.h (Normal ranges: 10-50 µmol/g.h)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.590-17_607del (GFLNYY197-202)

      Variant1ClinVarID: N/A

      Variant1CAID: CA2586973524

      Variant2: c.590-17_607del (GFLNYY197-202)

      Variant2ClinVarID: N/A

      Variant2CAID: CA2586973524

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 CAID:CA2586973524 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    illiad.lib.unc.edu/remoteauth/NOH/illiad.dll
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutation Analysis of the IDUA Gene in Iranian Patients with Mucopolysaccharidosis Type 1: Identification of Four Novel Mutations
    1
    1. ClingenBaseline 21 Oct 2026

      Case#: Patient 6, 5 years old, Iranian

      DiseaseAssertion: MPSI-H (Severe)

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.05 µmol/g.h (Normal ranges: 10-50 µmol/g.h)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.590-17_607del (GFLNYY197-202)

      Variant1ClinVarID: N/A

      Variant1CAID: CA2586973524

      Variant2: c.590-17_607del (GFLNYY197-202)

      Variant2ClinVarID: N/A

      Variant2CAID: CA2586973524

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 CAID:CA2586973524 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    pubmed.ncbi.nlm.nih.gov/31298590/