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 ACTC1. Remove filter

7 entries on 1 page. Showing entries 1 - 7.

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/ACTC1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2018-09-14
DIAN DIAGNOSTICS & Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
http://www.genomed.org/lovd2/home.php?select_db=ACTC1
Ming Qi, PhD, FACMG & Peikuan Cong & Yuanli Lei
Zhejiang University
Zhejiang University School of Medicine
- - LOVD 2.X 2013-05-17
MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/ACTC1
Lishuang Shen
Children's Hospital Los Angeles
- - LOVD 3.X 2014-04-18
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ACTC1[gene]

- - Other 2014-08-07
BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/ACTC1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/ACTC1
Admin
BRAINN
- - LOVD 3.X 2018-10-03
BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/ACTC1
Admin
BRAINN
- - LOVD 3.X 2018-10-06