Case:Croatian adult patient

DiseaseAssertion: VWD1

ParentalGenotype(s): Not specified

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

CaseHPOFreeText: Normal VWF:Ag of 62.8%, VWF:GPIbM of 60.8%, FVIII:C of 71% and VWF:CBA of 41.9%. 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.1531A>C

HGVS: NM_000552.4:c.1531A>C (p.Lys511Gln)

ClinVarID: Not available

CAID: CA383500354

gnomAD: Not available