3*ItalyF/21<1—NoSevere666G→A/823T→AW222X/C275S7/7HeterozygousN.A./BsrI (+)
Case: 3, F, 21, 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:
666G→A (Trp222X), Exon 7
823T→A (Cys275Ser), Exon 7
Compound Heterozygous