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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Or, specify the HGNC Gene Symbol:

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

10 entries on 1 page. Showing entries 1 - 10.

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
Leiden Muscular Dystrophy pages
http://www.dmd.nl/nmdb2/home.php?select_db=LMNA
Johan den Dunnen
private
- - LOVD 2.X 2017-12-30
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
Eva Nelis, Molecular Genetics Department, Flanders Interuniversity, Institute for Biotechnology (VIB, University of Antwerp (UA), Belgium
- - Other Unknown
The LMNA mutations database
http://www.umd.be/LMNA/
Gisèle Bonne & Rabah Ben Yaou
France
- - UMD Unknown
Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
http://www.genomed.org/lovd2/home.php?select_db=LMNA
Ming Qi, PhD, FACMG & Peikuan Cong
Zhejiang University
- - LOVD 2.X 2013-05-17
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/LMNA
Johan den Dunnen
private
- - LOVD 3.X 2018-09-11
LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LMNA
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/LMNA
Lishuang Shen
Children's Hospital Los Angeles
- - LOVD 3.X 2014-04-18
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LMNA[gene]

- - Other 2014-11-02
NDDVD - Neurodegenerative Diseases Variation Database
http://bioinf.suda.edu.cn/NDDvarbase/LOVDv.3.0/genes/LMNA
Y Yang
SUDA
- - LOVD 3.X 2015-10-23
BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/LMNA
Admin
BRAINN
- - LOVD 3.X 2017-10-26