CRYAA gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol CRYAA
Gene name crystallin, alpha A
Chromosome 21
Chromosomal band q22.3
Imprinted Not imprinted
Genomic reference NG_009823.1
Transcript reference NM_000394.2
Exon/intron information NM_000394.2 exon/intron table
Associated with diseases CTRCT-9
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Lars Hansen and Johan den Dunnen
Total number of public variants reported 85
Unique public DNA variants reported 23
Individuals with public variants 453
Hidden variants 0
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 CRYAA: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_000394.2.
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/CRYAA
External URL Orphanet
HGNC 2388
Entrez Gene 1409
PubMed articles CRYAA
OMIM - Gene 123580
OMIM - Diseases CTRCT-9 (cataract, type 9 (CTRCT-9))
HGMD CRYAA
GeneCards CRYAA
GeneTests CRYAA


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005708 21 crystallin, alpha A NM_000394.2 NP_000385.1 85


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.