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This database has been closed to new submissions.
The date of last curation was 07 June 2017 and the 'last update' on 04
August 2018 was a partial and uncurated update.
| General information |
| Gene name |
Paired box gene 6 |
| Gene symbol |
PAX6 |
| Chromosome Location |
11p13 |
| Database location |
MRC Human Genetics Unit |
| Curator |
Graeme Grimes, Isabel Hanson, Kathy Williamson and Veronica van Heyningen |
| Database reference for citations |
If you use the information in this database, please cite the following link: http://lsdb.hgu.mrc.ac.uk/home.php?select_db=PAX6 |
| PubMed references |
View all (unique) PubMed references in the PAX6 database |
| Date of creation |
August 20, 2007 |
| Last update |
August 04, 2018 |
| Version |
PAX6 180804 |
| Add sequence variant |
Submit a sequence variant |
| First time submitters |
Register here |
| Reference sequence |
coding DNA reference sequence for describing sequence variants |
| GenBank reference |
NG_008679 |
| Total number of unique DNA variants reported |
491 |
| Total number of individuals with variant(s) |
1067 |
| Total number of variants reported |
1088 |
| Subscribe to updates of this gene |
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| NOTE |
The reference cDNA sequence for this Database is NM_000280.3. Please click on 'PAX6 full legend' at the bottom of the table of variants for information about nucleotide and exon numbering. |
| 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 |
| 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. |
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