PMP22 gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol PMP22
Gene name peripheral myelin protein 22
Chromosome 17
Chromosomal band p12
Imprinted Unknown
Genomic reference NG_007949.1
Transcript reference NM_000304.3
Exon/intron information NM_000304.3 exon/intron table
Associated with diseases CMT-1A, CMT-1E, Dejerine-Sottas, HNPP, Roussy-Levy, Guillain-Barre syndrome, familial
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) LOVD-team, but with Curator vacancy and Johan den Dunnen
Total number of public variants reported 176
Unique public DNA variants reported 108
Individuals with public variants 113
Hidden variants 1
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB
Date created April 29, 2010
Date last updated July 17, 2019
Version PMP22:190717

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000304.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/PMP22
External URL IPNMDB - Inherited Peripheral Neuropathies Mutation DataBase
HGNC 9118
Entrez Gene 5376
PubMed articles PMP22
OMIM - Gene 601097
OMIM - Diseases CMT-1A (Charcot-Marie-Tooth disease, type IA (CMT-1A))
CMT-1E (Charcot-Marie-Tooth disease, type IE (CMT-1E))
Dejerine-Sottas (neuropathy, hypertrophic, Dejerine-Sottas (Dejerine-Sottas))
HNPP (neuropathy, hereditary, with liability pressure palsies (HNPP))
Roussy-Levy (syndrome, Roussy-Levy)
Guillain-Barre syndrome, familial
HGMD PMP22
GeneCards PMP22
GeneTests PMP22


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025424 17 transcript variant 1 NM_000304.3 NP_000295.1 176


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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