10 42 M 31 c.5335C.T p.R1779* Htz ,1 ,1 34 + -
Case: 10, M, 42 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: 34
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.5335C>T (p.Arg1779*), Exon 31, Heterozygous
15 29 M 31 c.5335C.T p.R1779* Hmz 1.8 ,1 16 + -
Case: 15, M, 29 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no, family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 1.8, VWF:Ag (U/dl): <1, Bleeding Score: 16
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.5335C>T (p.Arg1779*), Exon 31, Homozygous
12 16 F 31 c.5335C.T p.R1779* Hmz 6 ,1 16 + -
Case: 12, F, 16 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no, family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 6, VWF:Ag (U/dl): <1, Bleeding Score: 16
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.5335C>T (p.Arg1779*), Exon 31, Homozygous