RPS7 homepage - Diamond-Blackfan Anemia - Leiden Open Variation Database

General information
Gene name	ribosomal protein S7
Gene symbol	RPS7
Chromosome Location	2p25
Database location	www.dbagenes.unito.it
Curator	I. Boria and U. Ramenghi
Database reference for citations	The ribosomal basis of diamond-blackfan anemia: mutation and database update. Boria et al (2010) Hum Mutat [Epub ahead of print]
PubMed references	View all (unique) PubMed references in the RPS7 database
Date of creation	June 11, 2010
Last update	June 11, 2010
Version	RPS7 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_001011.3
Total number of unique DNA variants reported	1
Total number of individuals with variant(s)	1
Total number of variants reported	1
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NOTE	The RPS7 gene comprises 7 exons and spans 5.6 kb. The predicted size of the primary transcript is 745 bp; it encodes for a 194 amino acid protein (MW 22 kDa). 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 RPS7 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 RPS7 database, without patient data
Complete sequence variant listing	Listing of all sequence variants in the RPS7 database
Variants with no known pathogenicity	Listing of all RPS7 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
HGNC	10440
Entrez Gene	6201
OMIM - Gene	603658
OMIM - Disease	612563 (DBA8)
UniProtKB (SwissProt/TrEMBL)	P62081
HGMD	RPS7
External link	dbSNP

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Diamond-Blackfan Anemia

ribosomal protein S7 (RPS7)