I : 1
Case#: F7, I:1
DiseaseAssertion: Type 2 VWD
CaseHPOFreeText: partial loss of high molecular weight multimers, VWF:Ag = 88; VWF:RCo = 46; VWF:GPIbM = 81; 0.52; 0.93; 1.77
CasePreviousTesting: Not clearly described
Gene: VWF
Variant: p.[I1309V];[=]
HGVS: c.3925A>G (p.Ile1309Val)
CAID: CA228492
gnomAD: absent from gnomad v4.1.0