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 POMT1. 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/POMT1
Johan den Dunnen & Rosário dos Santos
private
Instituto de Genética Médica J. Magalhães
- - LOVD 3.X 2018-06-03
LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/POMT1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
The Genetic Eye Disorder (GEDI) Variation Database
http://mseqdr.lumc.edu/GEDI/genes/POMT1
Lishuang Shen
MEEI
- - LOVD 3.X 2013-11-19
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=POMT1[gene]

- - Other 2014-11-02
BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/POMT1
Admin
BRAINN
- - LOVD 3.X 2017-10-26