The ABCA4 gene homepage

The expert classification of the variants can be found here.

To other Inherited Retinal Disease gene variant database:
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_009073.2
Transcript reference NM_000350.2
Exon/intron information NM_000350.2 exon/intron table
Associated with diseases ARMD, ARMD2, CORD3, RP19, STGD1
Citation reference(s) PubMed: Cornelis 2017, Journal: Cornelis 2017
Refseq URL Genomic reference sequence
Curators (2) St├ęphanie Cornelis and Frans Cremers
Total number of public variants reported 27794
Unique public DNA variants reported 2397
Individuals with public variants 18045
Hidden variants 680
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases, currently supported by the

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 May 25, 2023
Version ABCA4:230525

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
Entrez Gene 24
PubMed articles ABCA4
OMIM - Gene 601691
OMIM - Diseases ARMD2 (macular degeneration, age-related, type 2 (ARMD-2))
CORD3 (dystrophy, cone rod, type 3 (CORD-3))
RP19 (retinitis pigmentosa, type 19 (RP19))
STGD1 (Stargardt disease, type 1 (STGD1))
GeneCards ABCA4
GeneTests ABCA4
Orphanet ABCA4

Active transcripts




NCBI ID     

NCBI Protein ID     

00001847 1 ATP-binding cassette, sub-family A (ABC1), member 4 NM_000350.2 NP_000341.2 27794

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 © 2010-2023. 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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