37IndiaF/29<1—NoMild1896G→A/3212G→TW642X/C1071F15/24HeterozygousMaeIII (+)/N.A.
Case: 37, F, 29, Indian
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:
1896G→A (Trp642X), Exon 15
3212G→T (Cys1071Phe), Exon 24
Compound Heterozygous