CRYAB gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol CRYAB
Gene name crystallin, alpha B
Chromosome 11
Chromosomal band q22.3-q23.1
Imprinted Not imprinted
Genomic reference NG_009824.2
Transcript reference NM_001885.1
Associated with diseases CMD-1II, CTRCT-16, MFM-2, myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related
Citation reference(s) -
Curators (1) Johan den Dunnen
Total number of public variants reported 86
Unique public DNA variants reported 41
Individuals with public variants 107
Hidden variants 0
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:.
This database is one of the ”Eye disease” gene variant databases.
Date created June 21, 2007
Date last updated November 11, 2018
Version CRYAB:181111

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 https://www.LOVD.nl/CRYAB
External URL Original source the Congenital Cataract Mutation Database
HGNC 2389
Entrez Gene 1410
PubMed articles CRYAB
OMIM - Gene 123590
OMIM - Diseases CMD-1II (cardiomyopathy, dilated, type 1II (CMD-1II))
CTRCT-16 (CTPP-2)
MFM-2 (myopathy, myofibrillar, type 2 (MFM-2))
myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related
HGMD CRYAB
GeneCards CRYAB
GeneTests CRYAB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005709 11 crystallin, alpha B NM_001885.1 NP_001876.1 86


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.

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