2 Matching Annotations
  1. Last 7 days
  2. journals.plos.org journals.plos.org
    pone.0092575 1..14
    2
    1. ClingenBaseline 22 Oct 2026
      48 2.5 M 18 c.2303G.A p.R768Q Hmz 2.5 ,1 6 - -

      Case: 48, M, 2.5 years, Indian

      DiseaseAssertion: VWD type 3

      FamilyInfo: no family history of disease, Consanguinity: no

      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.2303G>A (p.Arg768Gln), Exon 18

      Homozygous

      DiseaseEntity:VWD3 Zygosity:Homozygous Mutation:Missense CAID:CA6403104 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
    2. ClingenBaseline 22 Oct 2026
      55 9 F 18 c.2303G.A p.R768Q Htz 3.2 ,1 9 + -

      Case: 55, F, 9 years, Indian

      DiseaseAssertion: VWD type 3

      FamilyInfo: family history of disease, Consanguinity: no

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

      CaseHPOFreeText: FVIII:C: (U/dl): 3.2, VWF:Ag (U/dl): <1, Bleeding Score: 9

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: n/a

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      c.2303G>A (p.Arg768Gln), Exon 18

      Heterozygous

      DiseaseEntity:VWD3 Zygosity:Heterozygous Mutation:Missense CAID:CA6403104 inferred_gene_hgnc:12726 inferred_gene_source:CAID ClinGen VWF
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