28 4 M 45 c.7558C.T p.Q2520* Hmz 3.2 3.2 7 + -
Case: 28, M, 4 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no, family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 3.2, VWF:Ag (U/dl): 3.2, Bleeding Score: 7
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.7558C>T (p.Gln2520* ), Exon 45, Homozygous
29 0.8 F 45 c.7558C.T p.Q2520* Hmz 1.6 1.8 3 + +
Case: 29, F, 0.8 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: yes, family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 1.6, VWF:Ag (U/dl): 1.8, Bleeding Score: 3
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.7558C>T (p.Gln2520* ), Exon 45, Homozygous