Locus Specific Mutation Databases

Information If you know of an LSDB, which is not included in this list, you can submit it here.

  Please select the first letter of the Gene:
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Or, specify the HGNC Gene Symbol:

 Course: NGS in diagnostics, Sao Paulo, 26-29 november 2018
Information Currently active filter: LSDBs for gene COLQ. Remove filter

9 entries on 1 page. Showing entries 1 - 9.

Database name     
Curators     
Unique variants     
Linked diseases     
Software     
Last updated     
ESTHER www server: ESTerases and alpha/beta Hydrolase Enzymes & Relatives
http://bioweb.ensam.inra.fr/ESTHER/general?what=index		 Arnaud Chatonnet, Xavier Cousin
Institut National de la Recherche, Agronomique,Montpellier, France		 - - Other Unknown
Leiden Muscular Dystrophy pages
http://www.dmd.nl/nmdb2/home.php?select_db=COLQ		 Damien Sternberg & Johan den Dunnen
Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, Fr
private		 - - LOVD 2.X 2017-03-31
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/COLQ		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2015-04-02
LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/COLQ		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-17
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=COLQ[gene]
- - Other 2014-06-02
Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/COLQ		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-12
BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/COLQ		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/COLQ		 Admin
BRAINN		 - - LOVD 3.X 2018-10-06
BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/COLQ		 Admin
BRAINN		 - - LOVD 3.X 2018-10-11