View ABCA4 gene homepage

This database is one of the “Eye disease” gene variant databases: All expert classified variants
General information
Gene symbol ABCA4
Gene name ATP-binding cassette, sub-family A (ABC1), member 4
Chromosome 1
Chromosomal band p22
Imprinted Unknown
Genomic reference NG_009073.1
Transcript reference NM_000350.2
Exon/intron information NM_000350.2 exon/intron table
Associated with diseases ARMD, ARMD-2, CORD-3, RP-19, STGD-1
Citation reference(s) Cornelis 2017, {DOI:Cornelis 2017:10.1002/humu.23165}
Refseq URL Genomic reference sequence
Curators (1) Frans Cremers
Total number of public variants reported 6924
Unique public DNA variants reported 861
Individuals with public variants 3998
Hidden variants 46
Download all this gene's data Download all data
Notes This database is one of the “Eye disease” gene variant databases: All expert classified variants
The work leading to the establishment of this database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated June 21, 2017
Version ABCA4:170621

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_000350.2.
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/ABCA4
External URL Orphanet
HGNC 34
Entrez Gene 24
PubMed articles ABCA4
OMIM - Gene 601691
OMIM - Diseases ARMD-2 (macular degeneration, age-related, type 2 (ARMD-2))
CORD-3 (dystrophy, cone rod, type 3 (CORD-3))
RP-19 (retinitis pigmentosa, type 19 (RP-19))
STGD-1 (Stargardt disease, type 1 (STGD-1))
HGMD ABCA4
GeneCards ABCA4
GeneTests ABCA4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001847 1 ATP-binding cassette, sub-family A (ABC1), member 4 NM_000350.2 NP_000341.2 6924


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 © 2010-2017. 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.