RS1 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol RS1
Gene name retinoschisin 1
Chromosome X
Chromosomal band p22.2-p22.1
Imprinted Unknown
Genomic reference LRG_702
Transcript reference NM_000330.3
Exon/intron information NM_000330.3 exon/intron table
Associated with diseases RS-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Johan den Dunnen and Markus Preising
Total number of public variants reported 744
Unique public DNA variants reported 277
Individuals with public variants 956
Hidden variants 4
Download all this gene's data Download all data
Notes This database was initiated through the efforts of the Retinoschisis Consortium.
This database is one of the "Eye disease" gene variant databases.
Date created February 05, 1998
Date last updated October 12, 2019
Version RS1:191012

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_000330.3.
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
External URL Orphanet
Retina International RS1 mutation database
HGNC 10457
Entrez Gene 6247
PubMed articles RS1
OMIM - Gene 300839
OMIM - Diseases RS-1 (retinoschisis, type 1, X-linked (RS-1))
GeneCards RS1
GeneTests RS1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000905 X retinoschisin 1 NM_000330.3 NP_000321.1 744

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 © 1998-2019. 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.