2 Matching Annotations
  1. Last 7 days
  2. journals.plos.org journals.plos.org
    pone.0092575 1..14
    2
    1. ClingenBaseline 24 Oct 2026
      24 0.8 F 14 c.1693C.Tp.Q565* Hmz 2.4 2 3 - +

      Case: 24, F, 0.8 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): 2.4, VWF:Ag (U/dl): 2, Bleeding Score: 3

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.1693C>T (p.Gln565*), Exon 14, Homozygous

      DiseaseEntity: VWD3 Mutation:Nonsense Zygosity:Homozygous CAID:CA383498030 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 22 Oct 2026
      25 26 M 14 c.1693C.Tp.Q565* Hmz 2.5 ,1 6 - -

      Case: 25, M, 26 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): 2.5, VWF:Ag (U/dl): <1, Bleeding Score: 6

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.1693C>T (p.Gln565*), Exon 14, Homozygous

      DiseaseEntity:VWD3 Zygosity:Homozygous Mutation:Nonsense CAID:CA383498030 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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