Criteria used for classification are available from here.
Justification for classification of individual variants is accessible via the links in the InSiGHT_Class column, and also at the InSiGHT website.
We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template, and such contributions are recognised by microattribution.
||MutL homolog 1 (E.coli)|
||John-Paul Plazzer, Bryony Thompson, Hans Vasen, Michael Woods, Paivi Peltomäki and Rolf Sijmons|
||View all (unique) PubMed references in the MLH1 database|
|Date of creation
||January 01, 2008|
||February 25, 2015|
|Add sequence variant
||Submit a sequence variant|
|First time submitters
|Reference sequence file
||coding DNA reference sequence for describing sequence variants|
|Genomic refseq ID
|Transcript refseq ID
||Exon/intron information table|
|Total number of unique DNA variants reported
|Total number of individuals with variant(s)
|Total number of variants reported
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||We sincerely thank the George Hicks Foundation for their generous support of the curation of the InSiGHT database from 2010 to 2012. We are grateful for the ongoing funding for curation which is provided by the Royal Melbourne Hospital foundation. |
NOTE: in this database entries from the MMR, InSiGHT and MMRUV databases (for links see the gene homepage) have been merged. In addition new, unpublished variants have been entered by submitters directly.
We want to gratefully acknowledge the work performed by Amanda Dohey (Woods laboratory) to get this work done. In addition we want to thank Krista Mahoney for her efforts as a curator until 2011.
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||View all sequence variants of a certain type|
||Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)|
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|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 © 2015. 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.