TSC1 gene homepage

Classification of variants: please note that where there are several records of the same variant, the classification
of that variant may be contradictory depending on the submitter’s conclusion. For the curator’s opinion on the
classification of the variant, please view the SUMMARY record.
General information
Gene symbol TSC1
Gene name tuberous sclerosis 1
Chromosome 9
Chromosomal band q34
Imprinted Unknown
Genomic reference LRG_486
Transcript reference NM_000368.4
Exon/intron information NM_000368.4 exon/intron table
Associated with diseases FCORD-2, ID, LAM, TSC, TSC-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Rosemary Ekong
Total number of public variants reported 3596
Unique public DNA variants reported 1100
Individuals with public variants 3265
Hidden variants 157
Notes The Purpose of the Database is to provide information to help diagnostic laboratories and clinicians interpret the results of genetic testing for tuberous sclerosis (TSC). It can be difficult to decide whether a change found in the DNA of one of the TSC genes is the change that is causing TSC 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 TSC 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 TSC the database provides a valuable service for patients and their families.

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 variants not in the database or that there are errors, please inform us.

We gratefully acknowledge the key role of Sue Povey in establishing the TSC databases and their curation (2005-2019). She always gave thoughtful and careful consideration to the classification of each variant because there was always a patient involved.

The curation of this database is supported by the and the .
The database is kindly hosted by Global Variome, and the TSC 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.
Date created February 22, 2005
Date last updated December 06, 2019
Version TSC1:191206

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_000368.4.
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 https://www.LOVD.nl/TSC1
External URL Orphanet
TSC1 whole genome data sets (incl. EVS data)
HGNC 12362
Entrez Gene 7248
PubMed articles TSC1
OMIM - Gene 605284
OMIM - Diseases FCORD-2 (dysplasia, cortical, focal type II (FCORD-2))
LAM (lymphangioleiomyomatosis (LAM))
TSC-1 (tuberous sclerosis, type 1 (TSC-1))
HGMD TSC1
GeneCards TSC1
GeneTests TSC1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000056 9 tuberous sclerosis 1, transcript variant 1 NM_000368.4 NP_000359.1 3596


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 © 2005-2019. 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.