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:

Information Currently active filter: LSDBs for gene GJB1. Remove filter

8 entries on 1 page. Showing entries 1 - 8.

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
Eva Nelis Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium
- - Other Unknown
The Connexin-deafness homepage
http://davinci.crg.es/deafness/
Ester Ballana, Marina Ventayol, Paolo Gasparini, Xavier Estivill, (CRG) Barcelona Spain
- - Other Unknown
Leiden Muscular Dystrophy pages
http://www.dmd.nl/nmdb2/home.php?select_db=GJB1
Johan den Dunnen
private
- - LOVD 2.X 2017-03-31
Shared database
https://databases.lovd.nl/shared/genes/GJB1
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/GJB1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-08-01
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=GJB1[gene]

- - Other 2014-11-02
SpainMDB
https://lovd3.isciii.es/genes/GJB1
Sara Monzón & Javier Alonso
Instituto de Salud Carlos III
- - LOVD 3.X Unknown
 
http://db.cshg.org.cy/genes/GJB1
Panayiotis Laouris
The Cyprus Institute of Neurology and Genetics
- - LOVD 3.X 2017-09-20