LOVD BBS9 homepage

General information
Gene name Bardet-Biedl syndrome 9
Gene symbol BBS9
Chromosome Location 7p14
Database location grenada.lumc.nl
Curator LOVD-team, but with Curator vacancy
PubMed references View all (unique) PubMed references in the BBS9 database
Date of creation July 13, 2012
Last update October 03, 2013
Version BBS9 131003
Add sequence variant Submit a sequence variant
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Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_009306.1
Transcript refseq ID NM_198428.2
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 1
Total number of individuals with variant(s) 1
Total number of variants reported 2
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the BBS9 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the BBS9 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the BBS9 database
Variants with no known pathogenicity Listing of all BBS9 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 30000
Entrez Gene 27241
OMIM - Gene 607968
OMIM - Disease Bardet-Biedl syndrome 9 (BBS9)
UniProtKB (SwissProt/TrEMBL) Q3SYG4
HGMD BBS9
GeneCards BBS9
GeneTests BBS9