21 22 M 50 c.8145C.Ap.C2715* Hmz 8 4.9 9 - -
Case: 21, M, 22 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): 8, VWF:Ag (U/dl): 4.9, Bleeding Score: 9
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.8145C>A (p.Cys2715*), Exon 50, Homozygous
62 5 F 50 c.8145C.Ap.C2715* Hmz 3.5 2.6 15 - +
Case: 62, F, 5 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): 3.5, VWF:Ag (U/dl): 2.6, Bleeding Score: 15
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.8145C>A (p.Cys2715*), Exon 50, Homozygous