78 14 F 28 c.4525A.G p.I1509V Htz ,1 ,1 18 - -
Case: 78, F, 14 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: no family history of disease, Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): <1, VWF:Ag (U/dl): <1, Bleeding Score: 18
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.4525A>G (p.Ile1509Val), Exon 28
Heterozygous
89 16 F 28 c.4525A.G p.I1509V C.Htz 3.9 3 16 - -
Case: 89, F, 16 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: no family history of disease, Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 3.9, VWF:Ag (U/dl): 3, Bleeding Score: 16
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.4525A>G (p.Ile1509Val), Exon 28
Compound Heterozygous