PDE6A gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol PDE6A
Gene name phosphodiesterase 6A, cGMP-specific, rod, alpha
Chromosome 5
Chromosomal band q31.2-q34
Imprinted Unknown
Genomic reference NG_009102.1
Transcript reference NM_000440.2
Exon/intron information NM_000440.2 exon/intron table
Associated with diseases RP-43
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 118
Unique public DNA variants reported 95
Individuals with public variants 308
Hidden variants 4
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created July 06, 2012
Date last updated March 23, 2020
Version PDE6A:200323

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_000440.2.
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 https://www.LOVD.nl/PDE6A
HGNC 8785
Entrez Gene 5145
PubMed articles PDE6A
OMIM - Gene 180071
OMIM - Diseases RP-43 (retinitis pigmentosa, type 43 (RP-43))
GeneCards PDE6A
GeneTests PDE6A

Active transcripts




NCBI ID     

NCBI Protein ID     

00015883 5 phosphodiesterase 6A, cGMP-specific, rod, alpha NM_000440.2 NP_000431.2 118

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 © 2012-2020. 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.