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 BSCL2. 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
HSP Mutation Database
https://gwas.biosciencedbc.jp/cgi-bin/hvdb/hv_pos.cgi?gid=EG26580
Makiko Yoshida
Tokyo University Hospital, Tokyo University, and The central Research Laboratory of Hitachi Ltd.
- - Other 0000-00-00
Shared database
https://databases.lovd.nl/shared/genes/BSCL2
María-Jesús Sobrido & Sergio Piñeiro
Fundación Pública Galega de Medicina Xenómica
Neurogenetics and metabolic-thyroid disease groups, Instituto de Investigaciones Sanitarias de Santiago de Compostela (IDIS-SERGAS)
- - LOVD 3.X 2017-10-26
LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/BSCL2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=BSCL2[gene]

- - Other 2014-11-02
Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/BSCL2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10