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 PMP22. Remove filter

7 entries on 1 page. Showing entries 1 - 7.
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Database name     

Curators     

Rating     

Unique variants     

Software     

Last updated     
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/PMP22
Global Variome, with Curator vacancy & Johan den Dunnen
Database manager
private
Rating: 4Rating: 4Rating: 4Rating: 4 124 LOVD 3.X 2024-02-26
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=PMP22[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 520 ClinVar 2024-03-06
NDDVD - Neurodegenerative Diseases Variation Database
http://sysbio.org.cn/NDDVD/genes/PMP22
Y Yang
SUDA
Rating: 2Rating: 2Rating: 2Rating: 2 15 LOVD 3.X 2015-10-23

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
Rating: 2Rating: 2Rating: 2Rating: 2 - LOVD 3.X 2016-06-28
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/PMP22
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-04
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
Rating: 0Rating: 0Rating: 0Rating: 0 - Other Unknown
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