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:

Course: NGS in diagnostics, Sao Paulo, 26-29 november 2018
Information Currently active filter: LSDBs for gene CACNA1A. Remove filter

7 entries on 1 page. Showing entries 1 - 7.

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
Familial Hemiplegic Migraine (FHM) Variation Database
http://grenada.lumc.nl/LOVD2/FHM/home.php?select_db=CACNA1A
Paola Carrera PhD & Stefania Battistini MD PhD
San Raffaele Scientific Institute
Department of Neuroscience, Neurology Section, University of Siena
- - LOVD 2.X 2012-07-20
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/CACNA1A
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2018-07-25
LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/CACNA1A
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=CACNA1A[gene]

- - Other 2014-06-02
Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/CACNA1A
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/CACNA1A
Y Yang
SUDA
- - LOVD 3.X 2015-10-23
BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/CACNA1A
Admin
BRAINN
- - LOVD 3.X 2017-10-26