VWF gene homepage

General information
Gene symbol VWF
Gene name von Willebrand factor
Chromosome 12
Chromosomal band p13.31
Imprinted Unknown
Genomic reference NG_009072.1
Transcript reference NM_000552.3
Exon/intron information NM_000552.3 exon/intron table
Associated with diseases VWD, VWD-1, VWD-2, VWD-3
Citation reference(s) Hampshire & Goodeve, 2011
Refseq URL Genomic reference sequence
Curators (1) Daniel J Hampshire
Total number of public variants reported 1052
Unique public DNA variants reported 483
Individuals with public variants 634
Hidden variants 1
Notes This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.
Date created October 01, 2010
Date last updated June 24, 2019
Version VWF:190624

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000552.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/VWF
External URL EAHAD Coagulation Factor Variant Databases
von Willebrand factor Variant Database (VWFdb)
Orphanet
HGNC 12726
Entrez Gene 7450
PubMed articles VWF
OMIM - Gene 613160
OMIM - Diseases VWD-1 (von Willebrand disease, type 1 (VWD-1))
VWD-2 (von Willebrand disease, type 2 (VWD-2))
VWD-3 (von Willebrand disease, type 3 (VWD-3))
HGMD VWF
GeneCards VWF
GeneTests VWF


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022703 12 von Willebrand factor NM_000552.3 NP_000543.2 1052


Copyright & disclaimer
The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Mutation Databases are maintained and provided as a public service for the clinical, diagnostic and coagulation factor research communities. All individuals accessing and using the information contained in these mutation databases managed by EAHAD explicitly agree to abide by the database policy.

This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.