14*IranF/262—YesSevere652C→TQ218X6HomozygousN.A.
Case: 14, F, 26, Iranian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: Yes
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: VWF:Ag (U/dl): 2, Bleeding symptoms: Severe
CaseNotHPOs: n/a
CaseNotHPOFreeText: Anti-VWF alloantibodies: no
CasePreviousTesting: n/a
Gene: VWF
Variant:
652C→T (Gln218X), Exon 6, Homozygous