70 22 M 16 c.1946-1G.A Hmz 1.2 1 4 + -
Case: 70, M, 22 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: family history of disease, Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 1.2, VWF:Ag (U/dl): 1, Bleeding Score: 4
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.1946-1G>A, Exon 16
Homozygous