NEB gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol NEB
Gene name nebulin
Chromosome 2
Chromosomal band q22
Imprinted Not imprinted
Genomic reference NG_009382.2
Transcript reference NM_001164507.1, NM_001271208.1
Associated with diseases NEM, NEM-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (4) Katarina Pelin, Tom Winder, Vilma-Lotta Lehtokari and Johan den Dunnen
Total number of public variants reported 746
Unique public DNA variants reported 520
Individuals with public variants 357
Hidden variants 1
Notes This database is one of the gene variant databases from the:

This database has been established with the help of the Sylvie Hofman, student of the Hogeschool Leiden.
Date created November 01, 2008
Date last updated March 03, 2019
Version NEB:190303

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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/NEB
External URL Orphanet
HGNC 7720
Entrez Gene 4703
PubMed articles NEB
OMIM - Gene 161650
OMIM - Diseases NEM-2 (myopathy, nemaline, type 2 (NEM-2))
HGMD NEB
GeneCards NEB
GeneTests NEB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023994 2 transcript variant 4 NM_001271208.1 NP_001258137.1 664
00024003 2 transcript variant 1 NM_001164507.1 NP_001157979.1 321


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 © 2008-2019. 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.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.