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 POMGNT1. Remove filter

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

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
Leiden Muscular Dystrophy pages
http://www.dmd.nl/nmdb2/home.php?select_db=POMGNT1
Johan den Dunnen & Rosário dos Santos
private
Instituto de Genética Médica J. Magalhães, Unidade de Genética Molecular
- - LOVD 2.X 2017-03-31
Shared database
https://databases.lovd.nl/shared/genes/POMGNT1
Juha Muilu
Insitute for Molecular Medicine Finland
- - LOVD 3.X 2017-05-05
LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/POMGNT1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
The Genetic Eye Disorder (GEDI) Variation Database
http://mseqdr.lumc.edu/GEDI/genes/POMGNT1
Lishuang Shen
MEEI
- - LOVD 3.X 2013-11-19
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=POMGNT1[gene]

- - Other 2014-11-02
Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/POMGNT1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11