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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Course: NGS in diagnostics, Sao Paulo, 26-29 november 2018
Information Currently active filter: LSDBs for gene ACTN2. Remove filter

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

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
DIAN DIAGNOSTICS & Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
http://www.genomed.org/lovd2/home.php?select_db=ACTN2
Ming Qi, PhD, FACMG & Peikuan Cong & Yuanli Lei
Zhejiang University
Zhejiang University School of Medicine
- - LOVD 2.X 2013-05-26
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/ACTN2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2018-07-23
LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ACTN2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/ACTN2
Lishuang Shen
Children's Hospital Los Angeles
- - LOVD 3.X 2014-04-18
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ACTN2[gene]

- - Other 2014-11-02
Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/ACTN2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/ACTN2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/ACTN2
Admin
BRAINN
- - LOVD 3.X 2018-10-01
BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/ACTN2
Admin
BRAINN
- - LOVD 3.X 2018-10-04
BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/ACTN2
Admin
BRAINN
- - LOVD 3.X 2018-10-21