rs765927433

This variant is located in the VWF gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters1 publication

not provided; Inborn genetic diseases

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About VWF

This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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