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:
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Or, specify the HGNC Gene Symbol:

 Supported by:
Genome Scan, Next Generation Sequencing Services
Information Currently active filter: LSDBs for gene GJB1. Remove filter

12 entries on 1 page. Showing entries 1 - 12.

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
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/GJB1		 Johan den Dunnen
private		 - - LOVD 3.X 2018-12-11
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
NDDVD - Neurodegenerative Diseases Variation Database
http://bioinf.suda.edu.cn/NDDvarbase/LOVDv.3.0/genes/GJB1		 Y Yang
SUDA		 - - LOVD 3.X 2017-05-24
BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/GJB1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/GJB1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-11
BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/GJB1		 Admin
BRAINN		 - - LOVD 3.X 2018-11-06
BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/GJB1		 Admin
BRAINN		 - - LOVD 3.X 2019-01-17