Under construction - original from the ISTH-SSC VWF Online Database
LOVD VWF homepage

General information
Gene name von Willebrand factor
Gene symbol VWF
Chromosome Location 12p13.3
Database location grenada.lumc.nl
Curator Daniel J Hampshire
PubMed references View all (unique) PubMed references in the VWF database
Date of creation October 01, 2010
Last update January 05, 2016
Version VWF160105
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_009072.1
Transcript refseq ID NM_000552.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 708
Total number of individuals with variant(s) 1436
Total number of variants reported 1718
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NOTE Under construction - original from the ISTH-SSC VWF Online Database

Graphical displays and utilities
Summary tables Summary of all sequence variants in the VWF database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the VWF database, without patient data
Complete sequence variant listing Listing of all sequence variants in the VWF database
Variants with no known pathogenicity Listing of all VWF variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
Homepage http://www.vwf.group.shef.ac.uk/index.html
HGNC 12726
Entrez Gene 7450
OMIM - Gene 193400
OMIM - Disease von Willebrand disease (VWD)
UniProtKB (SwissProt/TrEMBL) P04275
GeneCards VWF
GeneTests VWF
External link #1 Orphanet
External link #2 ISTH-SSC VWF Online Database

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2016. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.

Under construction - original from the ISTH-SSC VWF Online Database