3 22 F 8 c.970C.T p.R324* Hmz ,1 ,1 4 - -
Case: 3, F, 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): <1, VWF:Ag (U/dl): <1, Bleeding Score: 4
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.970C>T (p.Arg324*), Exon 8, Homozygous