LOVD RPS17 homepage

General information
Gene name ribosomal protein S17
Gene symbol RPS17
Chromosome Location 15q
Database location www.dbagenes.unito.it
Curator I. Boria and U. Ramenghi
Database reference for citations A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia. Boria et al (2008) Hum Mutat 29(11),E263-70
PubMed references View all (unique) PubMed references in the RPS17 database
Date of creation November 21, 2007
Last update June 11, 2010
Version RPS17 100611
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000002.11
Transcript refseq ID NM_001021.3
Total number of unique DNA variants reported 3
Total number of individuals with variant(s) 3
Total number of variants reported 3
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NOTE The RPS17 gene comprises 5 exons and spans 3.7 kb. The predicted size of the primary transcript is 562 bp; it encodes for a 135 amino acid protein (MW 15.5 kDa). RPS17 has 4 annotated pseudogenes.
Link to the location of the pathogenic variants in relation to the gene

This database was partially supported by the ENERCA (European Network for Rare and Congenital Anaemias) project.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the RPS17 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 RPS17 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the RPS17 database
Variants with no known pathogenicity Listing of all RPS17 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

Links to other resources
Entrez Gene 6218
OMIM - Gene 180472
OMIM - Disease 612527 (DBA4)
External link dbSNP

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 © 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.

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