LOVD RB1 homepage

General information
Gene name retinoblastoma 1
Gene symbol RB1
Chromosome Location 13q14.2
Database location rb1-lovd.d-lohmann.de
Curator Dietmar Lohmann and Larissa Novakovic
PubMed references View all (unique) PubMed references in the RB1 database
Date of creation April 26, 2010
Last update January 18, 2021
Version RB1 210118
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000013.10
Transcript refseq ID NM_000321.2
Total number of unique DNA variants reported 1753
Total number of individuals with variant(s) 3373
Total number of variants reported 3397
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NOTE Includes retinoblastoma inducing mutations, innocent variants and all in between.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the RB1 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 RB1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the RB1 database
Variants with no known pathogenicity Listing of all RB1 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
Homepage http://rb1-lovd.d-lohmann.de/
External link #1 http://www.4s8.de/rb-wiki
HGNC 9884
Entrez Gene 5925
OMIM - Gene 180200
UniProtKB (SwissProt/TrEMBL) P06400
GeneCards RB1
GeneTests RB1

Copyright & disclaimer
The data is for scientific use only. Please use with care - we cannot guarantee that the data are error-free. We thank the Dr. Werner Jackstädt-Stiftung for funding the RB1-LOVD for several years.

Please help to improve the quality of the data and report any error that you may find!