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| General information |
| Gene name |
ACTin, Alpha 1 (skeletal muscle) |
| Gene symbol |
ACTA1 |
| Chromosome Location |
1q42.13 |
| Database location |
www.dmd.nl |
| Curator |
Kristen Nowak and Nigel Laing |
| PubMed references |
View all (unique) PubMed references in the ACTA1 database |
| Date of creation |
September 25, 2007 |
| Last update |
May 19, 2010 |
| Version |
ACTA1 100519 |
| Add sequence variant |
Submit a sequence variant |
| First time submitters |
Register here |
| Reference sequence |
coding DNA reference sequence for describing sequence variants |
| GenBank reference |
ACTA1_NG_006672.1.gb |
| Total number of unique DNA variants reported |
198 |
| Total number of individuals with variant(s) |
307 |
| Total number of variants reported |
330 |
| Subscribe to updates of this gene |
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| NOTE |
This is the Laing lab ACTA1 mutation database originally initiated at the Western Australian Institute for Medical Research (WAIMR). For purposes of conveniance for users it has been combined with other muscle-related gene variant databases at the Leiden Muscular Dystrophy pages.
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| 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 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 © 2010. 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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