27 16 F 45 c.7651C.Tp.Q2551* Hmz 2 3.6 11 - +
Case: 27, F, 16 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, VWF:Ag (U/dl): 3.6, Bleeding Score: 11
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.7651C>T (p.Gln2551*), Exon 45, Homozygous