LOVD RPS10 homepage

General information
Gene name ribosomal protein S10
Gene symbol RPS10
Chromosome Location 6p21.31
Database location grenada.lumc.nl
Curator LOVD-team, but with Curator vacancy
PubMed references View all (unique) PubMed references in the RPS10 database
Date of creation June 25, 2010
Last update January 05, 2013
Version RPS10 130105
Add sequence variant Submit a sequence variant
First time submitters Register here
Genomic refseq ID NG_023200.1
Transcript refseq ID NM_001014.3
Total number of unique DNA variants reported 3
Total number of individuals with variant(s) 5
Total number of variants reported 5
Subscribe to updates of this gene
NOTE Although we have initiated these databases, they are too many to be regularly updated and curated by us. We depend on the help of active volunteers to cope with this enormous task; a complete database is most helpful for users, especially for those using it trying to decide "is the variant found pathogenic or not". Do you perform sequence variant screening for any of these genes, please register and help to keep the databases up-to-date by submitting your findings (published and unpublished). Are you an expert for one of these genes or are you willing to help us, consider to become a curator (mail to; ddunnen @ HumGen.nl).

In the coming months we will try to update the databases by adding data retrieved from other public repositories (dbSNP, OMIM, literature, etc.).
In addition we will contact people that may have already established LSDBs for any of these genes and suggest joining efforts - we have no intention to duplicate work. Furthermore, we will invite researchers that we consider as potential curators - when you receive such a request, please give a positive reply!

The work leading to the establishment of these LSDBs 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 RPS10 database, sorted by type of variant (with graphical displays and statistics)
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 RPS10 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the RPS10 database
Variants with no known pathogenicity Listing of all RPS10 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 10383
Entrez Gene 6204
OMIM - Gene 603632
UniProtKB (SwissProt/TrEMBL) P46783
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 © 2016. 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.