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:

Information Currently active filter: LSDBs for gene IGHMBP2. Remove filter

6 entries on 1 page. Showing entries 1 - 6.

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
Leiden Muscular Dystrophy pages
http://www.dmd.nl/nmdb2/home.php?select_db=IGHMBP2
Jorge Oliveira
Centro de Genética Médica "Jacinto Magalhães". Centro Hospitalar do Porto
- - LOVD 2.X 2017-03-31
Shared database
https://databases.lovd.nl/shared/genes/IGHMBP2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2017-09-01
LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/IGHMBP2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=IGHMBP2[gene]

- - Other 2014-08-07
Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/IGHMBP2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12