87 16 F 28 c.5001G.Cp.Q1667H Hmz ,1 5.3 12 - +
Case: 87, F, 16 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: no family history of disease, Consanguinity: yes
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): <1, VWF:Ag (U/dl): 5.3, Bleeding Score: 12
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.5001G>C (p.Gln1667His), Exon 28
Homozygous