26 13 M 37 c.6418C.Tp.Q2140* Hmz ,1 ,1 8 + -
Case: 26, M, 13 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no, family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): <1, VWF:Ag (U/dl): <1, Bleeding Score: 8
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.6418C>T (p.Gln2140*), Exon 37, Homozygous