Variant Registry

VWFdb now utilises the Leiden Open (source) Variation Database (LOVD) system (Fokkema et al., 2005; Fokkema et al., 2011) to document variation in VWF. This new format combines mutations and polymorphisms into a single registry, eliminating previous confusion due to several VWF variants being listed as both mutations and polymorphisms in two separate registries. In addition, the new registry incorporates several new fields including VWF/FVIII levels, clinical bleeding scores (BS) and multimer patterns. Information regarding short tandem repeats (STR) located in VWF is listed separately.

A full alphabetical list of all VWF variant references is also available. Should users notice any errors or omissions within the registry please contact the database manager.

Viewing and searching variant registry

A legend describing all variant registry fields is available. Users initially accessing the variant registry will be presented with the unique variant listing. This overview shows all variant fields, but does not show patient information or variant pathogenicity. Variants reported multiple times are shown only once, but the number of times each variation has been reported in the registry is shown in brackets. Clicking on a variant will access the full information on that variant. Selecting the 'Search unique variants' option at the top of the page enables each field to be searched independently; type a search term into the field's search bar and press enter. Alternatively advanced searching can be performed.

Selecting the 'View all contents' option at the top of the page displays information on all reported variants separately, including patient information and variant pathogenicity. Selecting the 'Full database search' option at the top of the page allows field searching to be performed on all reported variants, including on the patient information and variant pathogenicity fields. Selecting the 'Database statistics' option at the top of the page allows users to access information summarising the number of variants per exon/intron, the number of DNA variants, the number of RNA variants and the number of protein variants.

This page is maintained by Dan Hampshire
Department of Cardiovascular Science, University of Sheffield