RPS17 homepage - Diamond-Blackfan Anemia - Leiden Open Variation Database

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
Add sequence variant	Submit a sequence variant
First time submitters	Register here
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
Subscribe to updates of this gene
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)
HGMD	RPS17
External link	dbSNP

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Diamond-Blackfan Anemia

ribosomal protein S17 (RPS17)