LOVD BBS7 homepage

General information
Gene name Bardet-Biedl syndrome 7
Gene symbol BBS7
Chromosome Location 4q27
Database location grenada.lumc.nl
Curator LOVD-team, but with Curator vacancy
PubMed references View all (unique) PubMed references in the BBS7 database
Date of creation July 06, 2012
Last update October 03, 2013
Version BBS7 131003
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_009111.1
Transcript refseq ID NM_176824.2
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
Subscribe to updates of this gene

Graphical displays and utilities
Summary tables Summary of all sequence variants in the BBS7 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

Links to other resources
HGNC 18758
Entrez Gene 55212
OMIM - Gene 607590
UniProtKB (SwissProt/TrEMBL) Q8IWZ6
HGMD BBS7
GeneCards BBS7
GeneTests BBS7