The RB1 gene homepage

General information
Gene symbol RB1
Gene name retinoblastoma 1
Chromosome 13
Chromosomal band q14.2
Imprinted Unknown
Genomic reference NG_009009.1
Transcript reference NM_000321.2
Exon/intron information NM_000321.2 exon/intron table
Associated with diseases cancer, bladder, RB-1, SCLC, osteosarcoma
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Kerry Goetz and Robert Hufnagel
Total number of public variants reported 1794
Unique public DNA variants reported 1759
Individuals with public variants 28
Hidden variants 29
Download all this gene's data Download all data
Notes NOTE:Includes retinoblastoma inducing mutations, innocent variants and all in between.

Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 26, 2010
Date last updated September 15, 2020
Version RB1:200915

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000321.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 9884
Entrez Gene 5925
PubMed articles RB1
OMIM - Gene 614041
OMIM - Diseases cancer, bladder
RB-1 (retinoblastoma (RB-1))
SCLC (cancer, lung, small cell (SCLS))
GeneCards RB1
GeneTests RB1

Active transcripts




NCBI ID     

NCBI Protein ID     

00017482 13 retinoblastoma 1 NM_000321.2 NP_000312.2 1794

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 © 2010-2020. 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.