1 Matching Annotations
  1. Oct 2026
    1. 33IndiaF/24<1—YesMild7137insTFS42HomozygousN.A.

      Case: 33, F, 24, Indian

      DiseaseAssertion: VWD type 3

      FamilyInfo: Consanguinity: Yes

      ParentalGenotype: n/a

      CasePresentingHPOs: n/a

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

      CaseNotHPOs: n/a

      CaseNotHPOFreeText: Anti-VWF alloantibodies: no

      CasePreviousTesting: n/a

      Gene: VWF

      Variant:

      7137insT (FS), Exon 42, Homozygous