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 OPTN. Remove filter

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

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=OPTN
LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL
- - LOVD 2.X 2013-05-21
Shared database
https://databases.lovd.nl/shared/genes/OPTN
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/OPTN
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=OPTN[gene]

- - Other 2014-03-07
Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/OPTN
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
NDDVD - Neurodegenerative Diseases Variation Database
http://bioinf.suda.edu.cn/NDDvarbase/LOVDv.3.0/genes/OPTN
XY Liu
SUDA
- - LOVD 3.X 2017-05-17