18 8 M 47 c.7300C.T p.R2434* Hmz 8 4.6 8 - +
Case: 18, M, 8 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): 8, VWF:Ag (U/dl): 4.6, Bleeding Score: 8
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.7300C>T (p.Arg2434*), Exon 47, Homozygous
Note: Look over exon