Locus Specific Mutation Databases

Information If you know of an LSDB, which is not included in this list, you can submit it here.

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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     
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/POMGNT1
Johan den Dunnen & Juha Muilu & Rosário dos Santos
private
Insitute for Molecular Medicine Finland
Instituto de Genética Médica J. Magalhães
- - LOVD 3.X 2018-02-05
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
MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/POMGNT1
Lishuang Shen
Children's Hospital Los Angeles
- - LOVD 3.X 2018-01-21