| 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 |
| 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_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 |
| Subscribe to updates of this gene |
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| NOTE |
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 |
| 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. |
| 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!
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