82 2 M 15 c.1830C.A p.Y610* Hmz 1.4 ,1 6 - -
Case: 82, M, 2 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no, no family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 1.4, VWF:Ag (U/dl): <1, Bleeding Score: 6
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.1830C>A (p.Tyr610*), Exon 15, Homozygous
4ItalyM/55<1—NoSevere1093C→T/1830C→AR365X/Y610X9/15HeterozygousTaqI (−)/DdeI (+)
Case: 4 , M, 55, Italian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: VWF:Ag (U/dl): <1, Bleeding symptoms: Severe
CaseNotHPOs: n/a
CaseNotHPOFreeText: Anti-VWF alloantibodies: no
CasePreviousTesting: n/a
Gene: VWF
Variant:
1093C→T (Arg365X), Exon 9
1830C→A (Tyr610X), Exon 15
Compound Heterozygous