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 KCNQ1. Remove filter

11 entries on 1 page. Showing entries 1 - 11.

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=KCNQ1
Ammar Husami
Cincinnati Children's Hospital Medical Center
- - LOVD 2.X 2010-04-22
Gene Connection for the Heart
http://www.fsm.it/cardmoc
S.G. Priori, P.J. Schwartz, Pavia, Italy
all data in LOVD3/shared
- - None (static pages) Unknown
DIAN DIAGNOSTICS & Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
http://www.genomed.org/lovd2/home.php?select_db=KCNQ1
Ming Qi, PhD, FACMG & Peikuan Cong & Tao Zhang
Zhejiang University
genomed
- - LOVD 2.X 2014-05-29
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/KCNQ1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2018-09-11
LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/KCNQ1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/KCNQ1
Lishuang Shen
Children's Hospital Los Angeles
- - LOVD 3.X 2013-12-10
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=KCNQ1[gene]

- - Other 2014-08-07
PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes
PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering
- - Other Unknown
Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/KCNQ1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-13
BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/KCNQ1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/KCNQ1
Admin
BRAINN
- - LOVD 3.X 2018-10-15