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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Supported by:
Genome Scan, Next Generation Sequencing Services
Information Currently active filter: LSDBs for gene PMP22. Remove filter

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

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.ua.ac.be/CMTMutations/
Eva Nelis 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/PMP22
LOVD-team, but with Curator vacancy & Johan den Dunnen
LUMC
private
- - LOVD 3.X 2019-04-08
LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/PMP22
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=PMP22[gene]

- - Other 2019-03-05

http://db.cshg.org.cy/genes/PMP22
Savvas Nikolaou & Carsten W Lederer & Anastasia Raoukka
The Cyprus Institute of Neurology and Genetics
The Cyprus Society of Human Genetics; The Cyprus Institute of Neurology and Genetics
The Cyprus Institute of Neurology & Genetics
- - LOVD 3.X 2016-06-28
NDDVD - Neurodegenerative Diseases Variation Database
http://bioinf.suda.edu.cn/NDDvarbase/LOVDv.3.0/genes/PMP22
Y Yang
SUDA
- - LOVD 3.X 2015-10-23
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/PMP22
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/PMP22
Admin
BRAINN
- - LOVD 3.X 2018-10-04
BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/PMP22
Admin
BRAINN
- - LOVD 3.X 2018-10-09
BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/PMP22
Admin
BRAINN
- - LOVD 3.X 2019-01-07