31 16 F 8 c.903T.Ap.Y301* C. 6.5 4 6 - +22 c.2878C.T,c.2880G.Ap.R960* Htz
Case: 31, F, 16 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: yes, no family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 6.5, VWF:Ag (U/dl): 4, Bleeding Score: 6
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.903T>A (p.Tyr301*), Exon 8
c.2878C>T, c.2880G>A (p.Arg960*), Exon 22
Compound Heterozygous