SYNE1 gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol SYNE1
Gene name spectrin repeat containing, nuclear envelope 1
Chromosome 6
Chromosomal band q24.2-q25.3
Imprinted Unknown
Genomic reference NG_012855.2
Transcript reference NM_182961.3
Exon/intron information NM_182961.3 exon/intron table
Associated with diseases EDMD-4, SCAR-8
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 1744
Unique public DNA variants reported 1049
Individuals with public variants 956
Hidden variants 53
Notes This database is one of the gene variant databases from the:
Date created September 09, 2009
Date last updated July 12, 2019
Version SYNE1:190712

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_182961.3.
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/SYNE1
HGNC 17089
Entrez Gene 23345
PubMed articles SYNE1
OMIM - Gene 608441
OMIM - Diseases EDMD-4 (dystrophy, muscular, Emery-Dreifuss, type 4, autosomal dominant (EDMD-4))
SCAR-8 (ataxia, spinocerebellar, autosomal recessive, type 8 (SCAR-8))
HGMD SYNE1
GeneCards SYNE1
GeneTests SYNE1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001219 6 transcript variant 1 NM_182961.3 NP_892006.3 1744


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 © 2009-2019. 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.