III-1
III-1, Female 10 years old
disease assertion: VWD
**positive family history **
Parental Genotype: each has heterozygous, 3251G>A
CasePresentingHPOs: CaseHPOFreeText: BS 4, VWF Ag:0.38, *VWF:GPIbM:0.15,VWF:CB:0.13, VWFpp :0.76, FVIII:C:0.10
CaseNOTHPOs:* N.a.
CaseNOTHPOFreeText: n.a.
CasePreviousTesting: *GenotypingMethod: Sanger seqencing;
*PreviouslyPublished:n.a.
Gene:VWF Variant:c.3251G>A*
*HGVS:NM_000552.5:c.3251G>A
- *ClinVarID:Variation ID: 626952
*CAID:n.a.
*gnomAD:n.a.