39IndiaM/33<1—NoMild4092delAC/7130insCFS/FS28/42HeterozygousN.A./N.A.
Case: 39, M, 33, 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:
4092delAC (FS), Exon 28
7130insC (FS), Exon 42
Compound Heterozygous