Variant: rs61748477 

    present in Gene: VWF
    present in Chromosome: 12
    Position on Chromosome: 6044361
    Alleles of this Variant: G/A

rs61748477 in VWF gene and Bleeding tendency PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs61748477 in VWF gene and von Willebrand Disease, Type 2 PMID 1832934 1991 Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease.

PMID 1729889 1992 Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease.

PMID 1673047 1991 Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr).

PMID 1906179 1991 "Expression of von Willebrand factor ""Normandy"": an autosomal mutation that mimics hemophilia A."

PMID 1419804 1992 Defects in type IIA von Willebrand disease: a cysteine 509 to arginine substitution in the mature von Willebrand factor disrupts a disulphide loop involved in the interaction with platelet glycoprotein Ib-IX.

PMID 1409710 1992 von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib.

PMID 8435341 1993 Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease.

PMID 1419803 1992 Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden.

PMID 1672694 1991 The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain.

PMID 21592258 2012 C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance.

PMID 8348943 1993 Two new candidate mutations in type IIA von Willebrand's disease (Arg834-->Gly, Gly846-->Arg) and one polymorphism (Tyr821-->Cys) in the A2 region of the von Willebrand factor.

PMID 8622978 1996 Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease.

PMID 2010538 1991 Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences.

PMID 8547152 1995 Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor.

PMID 8486782 1993 von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure.

PMID 7789955 1995 Identification of a candidate missense mutation in a family with von Willebrand disease type IIC.

PMID 8123843 1994 Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease.

PMID 7620154 1995 Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF.

PMID 8338947 1993 Identification of three candidate mutations causing type IIA von Willebrand disease using a rapid, nonradioactive, allele-specific hybridization method.

PMID 8011991 1994 Investigation of type IIC von Willebrand disease.