PMID:35491445

Gene:VWF

HGNCID:12726

Case:49‐year‐old Japanese male

DiseaseAssertion:type 3 VWD phenotype

FamilyInfo: Figure A Proband II-2, Parents I-1 & I-2 are cousins, Sons III-1 & III-2

ParentalGenotype(s): Consanguineous parents are asymptomatic and heterozygotes for VWFGly2752Ser

CasePresentingHPOs:HP:0000421, HP:0012147, HP:0030129, HP:0030130

CaseHPOFreeRext:VWF:Ag<5% or 0.12 ug/ml, VWF:RCo < 6%, FVIII:C 11%

CaseNOTHPOs: HP:0001934

GenotypingMethod:WES and Sanger sequencing

Gene:VWF

Variant:Homozygous c.8254 G>A(p.Gly2752Ser)

HGVS:NM_000552.5:c.8253+39C>T NC_000012.12:g.5949747G>A <br /> NC_000012.11:g.6058913G>A <br /> NG_009072.2:g.179924C>T <br /> LRG_587:g.179924C>T <br /> LRG_587t1:c.8253+39C>T

ClinVarID:440406

CAID:CA6401352

gnomAD:0.10024