2 Matching Annotations
  1. Oct 2026
  2. journals.plos.org journals.plos.org
    pone.0092575 1..14
    2
    1. ClingenBaseline 25 Oct 2026
      2 32 F 8 c.970C.T p.R324* Hmz 1 ,1 22 + -

      Case: 2, F, 32 years, Indian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: no, family history of disease

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: FVIII:C: (U/dl): 1, VWF:Ag (U/dl): 1, Bleeding Score: 22

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.970C>T (p.Arg324*), Exon 8, Homozygous

      DiseaseEntity:VWD3 Mutation:Nonsense Zygosity:Homozygous CAID:CA228862 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 22 Oct 2026
      3 22 F 8 c.970C.T p.R324* Hmz ,1 ,1 4 - -

      Case: 3, F, 22 years, Indian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: no, no family history of disease

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: FVIII:C: (U/dl): <1, VWF:Ag (U/dl): <1, Bleeding Score: 4

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.970C>T (p.Arg324*), Exon 8, Homozygous

      DiseaseEntity:VWD3 Zygosity:Homozygous Mutation:Nonsense CAID:CA228862 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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