The BBS12 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol BBS12
Gene name Bardet-Biedl syndrome 12
Chromosome 4
Chromosomal band q27
Imprinted Unknown
Genomic reference NG_021203.1
Transcript reference NM_001178007.1, NM_152618.2
Exon/intron information NM_001178007.1 exon/intron table
Associated with diseases BBS12, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 286
Unique public DNA variants reported 132
Individuals with public variants 168
Hidden variants 16
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 European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 28, 2012
Date last updated November 01, 2022
Version BBS12:221101

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_001178007.1.
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
HGNC 26648
Entrez Gene 166379
PubMed articles BBS12
OMIM - Gene 610683
OMIM - Diseases BBS12 (Bardet-Biedl syndrome, type 12 (BBS-12))
GeneCards BBS12
GeneTests BBS12
Orphanet BBS12

Active transcripts




NCBI ID     

NCBI Protein ID     

00000148 4 Bardet-Biedl syndrome 12, transcript variant 1 NM_001178007.1 NP_001171478.1 286
00025744 4 transcript variant 2 NM_152618.2 NP_689831.2 125

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2012-2022. 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.

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