The SEPT9 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
General information
Gene symbol SEPT9
Gene name septin 9
Chromosome 17
Chromosomal band q25.3
Imprinted Unknown
Genomic reference NG_011683.1
Transcript reference NM_006640.4
Associated with diseases HNA
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 138
Unique public DNA variants reported 104
Individuals with public variants 465
Hidden variants -
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. Variants submitted here will be shared with the IPNMDB.
Date created May 23, 2012
Date last updated February 26, 2024
Version SEPT9:240226

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 http://www.LOVD.nl/SEPT9
HGNC 7323
Entrez Gene 10801
PubMed articles SEPT9
OMIM - Gene 604061
OMIM - Diseases HNA (amyotrophy, neuralgic, hereditary)
HGMD SEPT9
GeneCards SEPT9
GeneTests SEPT9
Orphanet SEPT9


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018678 17 transcript variant 3 NM_006640.4 NP_006631.2 138


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2012-2024. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.