University of Sheffield

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VWF gene mutations
VWF gene polymorphisms
VWF nomenclature
VWF sequences
von Willebrand Disease
VWF diagrams
Useful links
Submission of new mutations/polymorphisms
References
Downloads
Searches
Details of our sponsor
Acknowledgements
Mutation Summary

ISTH VWF SSC Information Homepage

Fast link:

Mutations in the VWF Gene

For a description of the types of VWD please click here. For an alphabetical list of all VWF mutation references in the database, click here. To search the human VWF mutation database, click here. If you find any errors or ommisions, please email the database manager.

Full list of all VWF mutations in order of nucleotide number or select a class of von Willebrand disease (VWD) or VWF gene region from the list below.
By VWD type By VWF gene region
Type 1 Exons 3-19
Type 2A Exons 20-27
Type 2B Exon 28
Type 2M Exons 29-52 (+ major defects)
Type 2N Promoter
Type 3    
Unclassified    

Mutation references

Search for mutations

Download an Excel 98 file of all the VWF gene mutations reported

Database scripting provided by Ross MacLachlan of ragtime design

  
This page is maintained by Dan Hampshire
of the School of Medicine and Biomedical Sciences at the University of Sheffield