2 Matching Annotations
  1. Oct 2026
  2. journals.plos.org journals.plos.org
    pone.0092575 1..14
    2
    1. ClingenBaseline 25 Oct 2026
      19 1.3 F 45 c.7603C.T p.R2535* Htz 3.6 1 4 + -

      Case: 19, F, 1.3 years, Indian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: no, family history of disease

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: FVIII:C: (U/dl): 3.6, VWF:Ag (U/dl): 1, Bleeding Score: 4

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.7603C>T (p.Arg2535*), Exon 45, Heterozygous

      DiseaseEntity:VWD3 Zygosity:Heterozygous Mutation:Nonsense CAID:CA114145 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 21 Oct 2026
      20 10 M 45 c.7603C.T p.R2535* Hmz ,1 ,1 8 + -

      Case: 20, M, 10 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: 8

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.7603C>T (p.Arg2535*), Exon 45, Homozygous

      DiseaseEntity:VWD3 Zygosity:Homozygous Mutation:Nonsense CAID:CA114145 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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