8*ItalyF/7<1—NoMild4013C→G/6385G→TS1338X/E2129X28/37HeterozygousN.A./MnlI (−)
Case: 8, F, 7, Italian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: VWF:Ag (U/dl): <1, Bleeding symptoms: Mild
CaseNotHPOs: n/a
CaseNotHPOFreeText: Anti-VWF alloantibodies: no
CasePreviousTesting: n/a
Gene: VWF
Variant:
4013C→G (Ser1338X), Exon 28
6385G→T (Glu2129X), Exon 37
Compound Heterozygous