The MLH3 gene homepage
 
| General information |
| Gene symbol |
MLH3 |
| Gene name |
mutL homolog 3 (E. coli) |
| Chromosome |
14 |
| Chromosomal band |
q24.3 |
| Imprinted |
Not imprinted |
| Genomic reference |
LRG_217 |
| Transcript reference |
NM_001040108.1 |
| Exon/intron information |
NM_001040108.1 exon/intron table |
| Associated with diseases |
CRC, HNPCC, HNPCC1 (Lynch), HNPCC7, cancer, endometrial |
| Citation reference(s) |
- |
| Refseq URL |
Genomic reference sequence |
| Curators (1) |
InSiGHT - John-Paul Plazzer |
| Total number of public variants reported |
405 |
| Unique public DNA variants reported |
118 |
| Individuals with public variants |
431 |
| Hidden variants |
3 |
| Notes |
this is one of the InSiGHT gene variant databases.
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: this database was initiated by merging entries from the MMR, InSiGHT and MMRUV databases (for links see the gene homepage). We want to gratefully acknowledge Amanda Dohey (Woods laboratory) to get this work done. We also want to thank Johan den Dunnen (until 2018) for helping to curate the database. |
| Date created |
January 01, 2008 |
| Date last updated |
April 19, 2024 |
| Version |
MLH3:240419 |
| Links to other resources |
| Homepage URL |
https://www.LOVD.nl/MLH3 |
| External URL |
InSiGHT
MMRUV Groningen |
| HGNC |
7128 |
| Entrez Gene |
27030 |
| PubMed articles |
MLH3 |
| OMIM - Gene |
604395 |
| OMIM - Diseases |
CRC (cancer, colorectal, susceptibility to (CRC))
HNPCC1 (Lynch) (cancer, colorectal, nonpolyposis, hereditary, type 1 (HNPCC-1, Lynch syndrome))
HNPCC7 (cancer, colorectal, nonpolyposis, hereditary, type 7 (HNPCC-7))
cancer, endometrial |
| HGMD |
MLH3 |
| GeneCards |
MLH3 |
| GeneTests |
MLH3 |
| Orphanet |
MLH3 |
Active transcripts
| Copyright & disclaimer |
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2008-2024. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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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