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:

 Course: NGS in diagnostics, Sao Paulo, 26-29 november 2018
Information Currently active filter: LSDBs for gene CPT2. Remove filter

5 entries on 1 page. Showing entries 1 - 5.

Database name     
Curators     
Unique variants     
Linked diseases     
Software     
Last updated     
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/CPT2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2017-02-05
LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/CPT2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=CPT2[gene]
- - Other 2014-08-07
Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/CPT2		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/CPT2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-16