BBS9 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol BBS9
Gene name Bardet-Biedl syndrome 9
Chromosome 7
Chromosomal band p14
Imprinted Unknown
Genomic reference NG_009306.1
Transcript reference NM_198428.2
Exon/intron information NM_198428.2 exon/intron table
Associated with diseases BBS-9, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Timothy Barrett
Total number of public variants reported 133
Unique public DNA variants reported 94
Individuals with public variants 66
Hidden variants 21
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 28, 2012
Date last updated June 24, 2020
Version BBS9:200624

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_198428.2.
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/BBS9
External URL GeneCards
GeneTests
HGNC 30000
Entrez Gene 27241
PubMed articles BBS9
OMIM - Gene 607968
OMIM - Diseases BBS-9 (Bardet-Biedl syndrome, type 9 (BBS-9))
HGMD BBS9
GeneCards BBS9
GeneTests BBS9


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024049 7 transcript variant 2 NM_198428.2 NP_940820.1 133


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 © 2012-2020. 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.