CRYBA4 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol CRYBA4
Gene name crystallin, beta A4
Chromosome 22
Chromosomal band q12.1
Imprinted Not imprinted
Genomic reference NG_009825.1
Transcript reference NM_001886.2
Exon/intron information NM_001886.2 exon/intron table
Associated with diseases CTRCT-23
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Lars Hansen and Johan den Dunnen
Total number of public variants reported 20
Unique public DNA variants reported 15
Individuals with public variants 97
Hidden variants 1
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 July 23, 2017
Version CRYBA4:170723

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_001886.2.
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 http://www.LOVD.nl/CRYBA4
External URL Orphanet
HGNC 2396
Entrez Gene 1413
PubMed articles CRYBA4
OMIM - Gene 123631
OMIM - Diseases CTRCT-23 (cataract, type 23 (CTRCT-23, lamellar))
HGMD CRYBA4
GeneCards CRYBA4
GeneTests CRYBA4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005712 22 crystallin, beta A4 NM_001886.2 NP_001877.1 20


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2007-2018. 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 out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the 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.