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 CHMP2B. Remove filter

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

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
ALS Mutation Database
https://gwas.biosciencedbc.jp/cgi-bin/hvdb/hv_pos.cgi?gid=EG25978
Makiko Yoshida
Tokyo University Hospital, Tokyo University, and The central Research Laboratory of Hitachi Ltd.
- - Other 0000-00-00
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/CHMP2B
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2018-01-08
LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/CHMP2B
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-17
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=CHMP2B[gene]

- - Other 2014-03-07
NDDVD - Neurodegenerative Diseases Variation Database
http://bioinf.suda.edu.cn/NDDvarbase/LOVDv.3.0/genes/CHMP2B
Y Yang
SUDA
- - LOVD 3.X 2017-11-15
Coppola Lab - GIFT Variant Database
https://coppolalab.ucla.edu/lovd_gift/genes/CHMP2B
Ariane Ayer
Coppola lab
- - LOVD 3.X 2017-11-06
BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/CHMP2B
Admin
BRAINN
- - LOVD 3.X 2017-10-26
BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/CHMP2B
Admin
BRAINN
- - LOVD 3.X 2018-10-07
BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/CHMP2B
Admin
BRAINN
- - LOVD 3.X 2018-10-12