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:

Course: NGS in diagnostics, Sao Paulo, 26-29 november 2018
Information Currently active filter: LSDBs for gene ABCC9. Remove filter

8 entries on 1 page. Showing entries 1 - 8.

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=ABCC9
Ming Qi, PhD, FACMG & Peikuan Cong & Yuanli Lei
Zhejiang University
Zhejiang University School of Medicine
- - LOVD 2.X 2014-04-22
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/ABCC9
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/ABCC9
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/ABCC9
Lishuang Shen
Children's Hospital Los Angeles
- - LOVD 3.X 2014-04-18
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ABCC9[gene]

- - Other 2014-09-01
BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/ABCC9
Admin
BRAINN
- - LOVD 3.X 2017-10-26
BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/ABCC9
Admin
BRAINN
- - LOVD 3.X 2018-10-01
BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/ABCC9
Admin
BRAINN
- - LOVD 3.X 2018-10-05