Case: Croatian adult patient

DiseaseAssertion: VWD1

FamilyInfo: No variant detected in a family member

ParentalGenotype(s): Not specified

CasePresentingHPOs: HP:0001892, HP:0011890, HP:0000132, HP:0002239, HP:0000790, HP:0001342

CaseHPOFreeText: Reduced VWF:Ag of 48.5%, VWF:GPIbM of 36.6% and VWF:CBA of 32.4%. Normal FVIII:C of 104%. Normal multimer distribution.

CaseNOTHPOs: Not specified

CaseNOTHPOFreeText: Normal multimer size distribution (tested in Agarose gel).

CasePreviousTesting: Not reported

GenotypingMethod: Illumina NGS, custom designed panel covering all 52 exons as well as intronic flanking regions and promoter region of VWF gene.

PreviouslyPublished: None

Gene: VWF

Variant: c.6504C>A

HGVS: NM_000552.4:c.6504C>A (p.Cys2168Ter)

ClinVarID: Not available

CAID: CA383491048

gnomAD: Not available