2 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ajhg00053-0036.pdf
    2
    1. ClingenBaseline 26 Oct 2026
      M1

      Case#: Patient M1, Muslim religious group, located in lower Galilee.

      DiseaseAssertion: MPS1-H

      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.192C>A (p.Y64X)

      Variant1ClinVarID: 11914

      Variant1CAID: N/A

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo c.192C>A DiseaseEntity:MPS1 ClinVarID:11914 inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
    2. ClingenBaseline 25 Oct 2026
      D1

      Case#: Patient D1, Druze religious group, located in lower Galilee.

      DiseaseAssertion: MPS1-H

      FamilyInfo: Both parents, as well as an aunt and uncle who had a deceased affected child, were heterozygous for the same mutation.

      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.192C>A (p.Y64X)

      Variant1ClinVarID: 11914

      Variant1CAID: N/A

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo c.192C>A ClinVarID:11914 inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/instance/1682364/pdf/ajhg00053-0036.pdf