BBS7 homepage - Eye diseases - LOVD - Leiden Open Variation Database

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	July 06, 2012
Version	BBS7 120706
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
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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

Eye diseases - LOVD