5 Matching Annotations
  1. Oct 2026
  2. journals.plos.org journals.plos.org
    pone.0092575 1..14
    3
    1. ClingenBaseline 24 Oct 2026
      5 49 F 9 c.1093C.T p.R365* Hmz ,1 ,1 13 + -

      Case: 5, F, 49 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: 13

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.1093C>T (p.Arg365*), Exon 9, Homozygous

      CAID:CA228257 DiseaseEntity:VWD3 Zygosity:Homozygous Mutation:Nonsense inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 23 Oct 2026
      4 20 M 9 c.1093C.T p.R365* Hmz ,1 ,1 22 + +

      Case: 4, M, 20 years, Indian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: yes, 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.1093C>T (p.Arg365*), Exon 9, Homozygous

      DiseaseEntity:VWD3 Zygosity:Homozygous Mutation:Nonsense CAID:CA228257 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    3. ClingenBaseline 22 Oct 2026
      6 24 F 9 c.1093C.T p.R365* Hmz 1 ,1 22 - +

      Case: 6, F, 24 years, Indian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: yes, 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.1093C>T (p.Arg365*), Exon 9, Homozygous

      DiseaseEntity:VWD3 Zygosity:Homozygous Mutation:Nonsense CAID:CA228257 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    journals.plos.org/plosone/article/file
  3. www.sciencedirect.com www.sciencedirect.com
    Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients
    2
    1. ClingenBaseline 24 Oct 2026
      16*IranF/161—YesSevere1093C→TR365X9HomozygousTaqI (−)

      Case: 16, F, 16, Iranian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: Yes

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: VWF:Ag (U/dl): 1, Bleeding symptoms: Severe

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: Anti-VWF alloantibodies: no

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      1093C→T (Arg365X), Exon 9, Homozygous

      DiseaseEntity:VWD3 Mutation:Nonsense Zygosity:Homozygous PreviouslyPublished CAID:CA228257 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 21 Oct 2026
      4ItalyM/55<1—NoSevere1093C→T/1830C→AR365X/Y610X9/15HeterozygousTaqI (−)/DdeI (+)

      Case: 4 , M, 55, Italian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: no

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: VWF:Ag (U/dl): <1, Bleeding symptoms: Severe

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: Anti-VWF alloantibodies: no

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      1093C→T (Arg365X), Exon 9

      1830C→A (Tyr610X), Exon 15

      Compound Heterozygous

      DiseaseEntity:VWD3 Mutation:Nonsense Zygosity:CompoundHeterozygous CAID:CA228257 CAID:CA228289 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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    URL

    sciencedirect.com/science/article/pii/S1079979603000330