| General information |
| Gene name |
Tuberous sclerosis 2 |
| Gene symbol |
TSC2 |
| Chromosome Location |
16p13.3 |
| Database location |
chromium.liacs.nl |
| Curator |
Sue Povey & Rosemary Ekong |
| PubMed references |
View all (unique) PubMed references in the TSC2 database |
| Date of creation |
January 24, 2005 |
| Last update |
June 19, 2013 |
| Version |
TSC2 130619 |
| 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_005895.1 |
| Transcript refseq ID |
NM_000548.3 |
| Exon/intron information |
Exon/intron information table |
| Total number of unique DNA variants reported |
1674 |
| Total number of individuals with variant(s) |
3958 |
| Total number of variants reported |
4147 |
| Subscribe to updates of this gene |
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| NOTE |
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 it is kindly hosted by the Leiden University Medical Center. The curators are based at University College London.
Liability - 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 TS Alliance, University College London, Leiden University Medical Centre 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. |
| Search the database |
| By type of variant |
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| Simple search |
Query the database by selecting the most important variables (exon number, type of variant, disease phenotype) |
| Advanced search |
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| Based on patient origin |
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| 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 © 2013. 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. |
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