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LOVD TSC1 homepage

General information
Gene name Tuberous sclerosis 1
Gene symbol TSC1
Chromosome Location 9q34
Database location
Curator Rosemary Ekong
PubMed references View all (unique) PubMed references in the TSC1 database
Date of creation February 22, 2005
Last update February 12, 2019
Version TSC1 190212
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 NG_012386.1
Transcript refseq ID NM_000368.4
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 928
Total number of variants reported 2613
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NOTE The Purpose of the Database is to provide information to help diagnostic laboratories and clinicians interpret the results of genetic testing for tuberous sclerosis. It can be difficult to decide whether a change found in the DNA of one of the TS genes is the change that is causing tuberous sclerosis or a harmless variation which can be ignored. The database allows scientists and clinicians to check whether the change has been reported by other laboratories and whether it is thought to be a cause of tuberous sclerosis or a normal variation. All the information in the database is anonymous and care has been taken to exclude any information which might lead to patients being identified. In supporting genetic testing for tuberous sclerosis the database provides a valuable service for patients and their families.

Allelic variants listed here are collated from The Cardiff-Rotterdam Tuberous Sclerosis Mutation Database, David Kwiatkowski's Tuberous Sclerosis Project, publications and submissions to the database. Should you notice that there are allelic variants not in the database or that there are errors, please inform us.

The curation of this database is supported by the TSAlliance and the Tuberous Sclerosis Association, and it is kindly hosted by the Leiden University Medical Center. The curators are based at University College London.

Uncurated Data - If you have a Clinical problem with a variant that is not visible in the database, please note that we have a backlog of uncurated data, so do contact us.

Liability - All contents of this database are protected by local and international copyright laws. The information is submitted for the purpose of sharing genetic and clinical information. Genetic variants listed may or may not have a causal association with disease phenotypes, irrespective of stated classifications or other information presented in the database. All information in this database, including variant classifications, is subject to change and there is no warranty, express or implied, as to its accuracy, completeness, or fitness for a particular purpose. Use of this database and information is subject to User responsibility and discretion. Clinical decisions regarding individual patient care should be carried out in conjunction with a healthcare professional with expertise in the relevant genes and diseases. We (the TS Alliance, the Tuberous Sclerosis Association, University College London, Leiden University Medical Centre or any of their employees or agents) do not accept any liability for any injury, loss or damage incurred by use of or reliance on the information provided by this database.

Database submitters are required to adhere to their institution's rules for data sharing, and local and national laws. Submitters retain the rights to use their data and can update their data by contacting the curators. Database curators may curate data to ensure that database formatting and quality standards are met. They may also share submitted data with external parties for research purposes or for sharing with other databases.

Graphical displays and utilities
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
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 TSC1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the TSC1 database
Variants with no known pathogenicity Listing of all TSC1 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

Links to other resources
HGNC 12362
Entrez Gene 7248
OMIM - Gene 605284
OMIM - Disease tuberous sclerosis, type 1 (TSC-1)
GeneCards TSC1
GeneTests TSC1
External link #1 Orphanet
External link #2 TSC1 whole genome data sets (incl. EVS data)

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 © 2019. 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.