2ItalyF/58<1—NoSevere421G→T/2016del4D141Y/FS5/16HeterozygousBstYI (+)/N.A.
Case: 2, F, 58, 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:
421G→T (Asp141Tyr), Exon 5
2016del4 (FS), Exon 16
Compound Heterozygous