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Submission: On July 03 via api from US — Scanned from DE
Effective URL: https://d-lohmann.de/home.php?select_db=RB1
Submission: On July 03 via api from US — Scanned from DE
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RB1-LSDB RETINOBLASTOMA 1 (RB1) LOVD v.2.0 Build 34 [ Current LOVD status ] Register as submitter | Log in Curators: Dietmar Lohmann and Larissa Novakovic 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 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 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 HGMD RB1 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 Jackst�dt-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! Powered by LOVD v.2.0 Build 34 Enabled modules: mutalyzer, recaptcha, showmaxdbid ©2004-2012 Leiden University Medical Center