RP1L1 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol RP1L1
Gene name retinitis pigmentosa 1-like 1
Chromosome 8
Chromosomal band p23.1
Imprinted Unknown
Genomic reference NG_028035.1
Transcript reference NM_178857.5
Associated with diseases Occult macular dystrophy
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Jacopo Celli
Total number of public variants reported 539
Unique public DNA variants reported 396
Individuals with public variants 11465
Hidden variants 36
Notes This database is one of the "Eye disease" gene variant databases.
Date created November 24, 2010
Date last updated May 28, 2020
Version RP1L1:200528

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 http://www.LOVD.nl/RP1L1
External URL Orphanet
HGNC 15946
Entrez Gene 94137
PubMed articles RP1L1
OMIM - Gene 608581
OMIM - Diseases Occult macular dystrophy

Active transcripts




NCBI ID     

NCBI Protein ID     

00018053 8 retinitis pigmentosa 1-like 1 NM_178857.5 NP_849188.4 539

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 © 2010-2020. 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.