Case: Croatian adult patient

DiseaseAssertion: VWD1

FamilyInfo: Not specified

ParentalGenotype(s): Not specified

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

CaseHPOFreeText: Reduced VWF:Ag of 19.5%, and VWF:GPIbM of 15.6% and VWF:CBA of 14%. Normal FVIII:C of 72%. 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.1496A>C

HGVS: NM_000552.4:c.1496A>C (p.Gln499Pro)

ClinVarID: Not available

CAID: CA383500550

gnomAD: Not available