23 10 F 18 c.2430C.Ap.C810* Htz 3.1 ,1 8 + +
Case: 23, F, 10 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: yes, family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 3.1, VWF:Ag (U/dl): <1, Bleeding Score: 8
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.2430C>A (p.Cys810*), Exon 18, Heterozygous