LOVD ABCA4 homepage

General information
Gene name ATP-binding cassette, sub-family A (ABC1), member 4
Gene symbol ABCA4
Chromosome Location 1p22
Database location grenada.lumc.nl
Curator Johan den Dunnen
PubMed references View all (unique) PubMed references in the ABCA4 database
Date of creation April 29, 2010
Last update November 15, 2014
Version ABCA4 141115
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_009073.1
Transcript refseq ID NM_000350.2
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 48
Total number of individuals with variant(s) 86
Total number of variants reported 146
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NOTE 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 nÂș 200754 - the GEN2PHEN project.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the ABCA4 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the ABCA4 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the ABCA4 database
Variants with no known pathogenicity Listing of all ABCA4 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 34
Entrez Gene 24
OMIM - Gene 601691
OMIM - Disease #1 retinitis pigmentosa, type 19 (RP-19)
OMIM - Disease #2 dystrophy, cone-rod, type 3 (CORD-3)
OMIM - Disease #3 macular degeneration, age-related, type 2 (ARMD-2)
OMIM - Disease #4 Stargardt disease, type 1 (STGD-1)
UniProtKB (SwissProt/TrEMBL) P78363
HGMD ABCA4
GeneCards ABCA4
GeneTests ABCA4
External link Orphanet

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 © 2014. 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.