The CRYBB1 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol CRYBB1
Gene name crystallin, beta B1
Chromosome 22
Chromosomal band q12.1
Imprinted Not imprinted
Genomic reference NG_009826.1
Transcript reference NM_001887.3
Exon/intron information NM_001887.3 exon/intron table
Associated with diseases CTRCT17
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Lars Hansen and Johan den Dunnen
Total number of public variants reported 24
Unique public DNA variants reported 17
Individuals with public variants 71
Hidden variants 5
Notes original source the Congenital Cataract Mutation Database (CCMdb)
This database is one of the "Eye disease" gene variant databases.
Date created June 21, 2007
Date last updated March 22, 2023
Version CRYBB1:230322

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_001887.3.
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 2397
Entrez Gene 1414
PubMed articles CRYBB1
OMIM - Gene 600929
OMIM - Diseases CTRCT17 (CATCN3)
GeneCards CRYBB1
GeneTests CRYBB1
Orphanet CRYBB1

Active transcripts




NCBI ID     

NCBI Protein ID     

00005713 22 crystallin, beta B1 NM_001887.3 NP_001878.1 24

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 © 2007-2023. 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.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.