NOTE:
LOVD is intended for use primarily by physicians and other
professionals concerned with genetic disorders, by genetics researchers, and
by advanced students in science and medicine. While the LOVD database is
open to the public, users seeking information about a personal medical or
genetic condition are urged to consult with a qualified physician for
diagnosis and for answers to personal questions. Further, please be
sure to visit the LOVD web site for the very latest, as they are continually
updating data.
DOWNLOADS:
LOVD databases are owned by their respective curators
and are not available for download or mirroring
by any third party without their permission. Please see the
LOVD web site
for a list of database installations and the respective curators.
This track shows the genomic positions of all public entries in public installations of the Leiden Open Variation Database system (LOVD). UCSC does not host any further information. To get details on a mutation (bibliographic reference, phenotype, disease, patient, etc.), follow the "Link to LOVD" to the central server at Leiden, which will then redirect you to the details page on the particular LOVD server for the variant you selected.
LOVD is a flexible, freely-available tool for gene-centered collection and display of DNA variations. It is not a database itself, but rather a platform where curators store and analyze data. While the LOVD team and the biggest LOVD sites are run at the Leiden University Medical Center, LOVD installations and their curators are spread over the whole world.
Genomic locations of LOVD variation entries are labeled with the gene symbol and the description of the mutation according to Human Gene Variation Society standards. For instance, the label AGRN:c.172G>A means that the cDNA of AGRN is mutated from G to A at position 172.
All other information is shown on the respective LOVD variation page, accessible via the "Link to LOVD" above.
The mappings displayed in this track were provided by LOVD.
Thanks to the LOVD team, Ivo Fokkema, Peter Taschner, Johan den Dunnen, and all LOVD curators for permission to export their data.
Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT. LOVD v.2.0: the next generation in gene variant databases. Hum Mutat. 2011 May;32(5):557-63. PMID: 21520333