Eye diseases - LOVD
Bardet-Biedl syndrome 9 (BBS9)
LOVD v.2.0 Build 35 [
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Curator:
LOVD-team, but with Curator vacancy
BBS9 homepage
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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
July 13, 2012
Version
BBS9 120713
Add sequence variant
Submit a sequence variant
First time submitters
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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
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 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
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
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Leiden University Medical Center