|Dietmar Lohmann and Larissa Novakovic
|View all (unique) PubMed references in the RB1 database
|Date of creation
|April 26, 2010
|January 18, 2021
|Add sequence variant
|Submit a sequence variant
|First time submitters
|Reference sequence file
|coding DNA reference sequence for describing sequence variants
|Genomic refseq ID
|Transcript refseq ID
|Total number of unique DNA variants reported
|Total number of individuals with variant(s)
|Total number of variants reported
|Subscribe to updates of this gene
|Includes retinoblastoma inducing mutations, innocent variants and all in between.
|Search the database
|By type of variant
|View all sequence variants of a certain type
|Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
|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.
|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!