The CRYBA1 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol CRYBA1
Gene name crystallin, beta A1
Chromosome 17
Chromosomal band q11.2-q12
Imprinted Not imprinted
Genomic reference NG_008037.1
Transcript reference NM_005208.4
Exon/intron information NM_005208.4 exon/intron table
Associated with diseases CTRCT-10
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Lars Hansen and Johan den Dunnen
Total number of public variants reported 46
Unique public DNA variants reported 24
Individuals with public variants 208
Hidden variants 3
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 November 22, 2021
Version CRYBA1:211122

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_005208.4.
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 2394
Entrez Gene 1411
PubMed articles CRYBA1
OMIM - Gene 123610
OMIM - Diseases CTRCT-10 (cataract, type 10, multiple types (CTRCT-10))
GeneCards CRYBA1
GeneTests CRYBA1
Orphanet CRYBA1

Active transcripts




NCBI ID     

NCBI Protein ID     

00005710 17 crystallin, beta A1 NM_005208.4 NP_005199.2 46

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 © 2007-2021. 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.