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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Information Currently active filter: LSDBs for gene PSEN1. Remove filter

12 entries on 1 page. Showing entries 1 - 12.

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
Alzheimer Disease & Frontotemporal Dementia Mutation Database
http://www.molgen.ua.ac.be/ADMutations/
Marc Cruts & Nathalie Brouwers Molecular Genetics Department Flanders Interuniversity Institute for Biotechnology (VIB) University of Antwerp (UA), Belgium
- - Other Unknown
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/PSEN1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2019-04-09
LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/PSEN1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=PSEN1[gene]

- - ClinVar 2019-10-01
MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/PSEN1
Lishuang Shen
Children's Hospital Los Angeles
- - LOVD 3.X 2014-04-18
Alzforum Mutation Database
http://www.alzforum.org/mutations
Kelly Dakin
Alzforum
- - Other 2015-04-15
Coppola Lab - GIFT Variant Database
https://coppolalab.ucla.edu/lovd_gift/genes/PSEN1
Ariane Ayer
Coppola lab
- - LOVD 3.X 2017-10-17
NDDVD - Neurodegenerative Diseases Variation Database
http://bioinf.suda.edu.cn/NDDvarbase/LOVDv.3.0/genes/PSEN1
Y Yang
SUDA
- - LOVD 3.X 2018-08-01
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/PSEN1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/PSEN1
Admin
BRAINN
- - LOVD 3.X 2018-10-03
BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/PSEN1
Admin
BRAINN
- - LOVD 3.X 2019-11-01
BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/PSEN1
Admin
BRAINN
- - LOVD 3.X 2019-11-01