The DNMT1 gene homepage

General information
Gene symbol DNMT1
Gene name DNA (cytosine-5-)-methyltransferase 1
Chromosome 19
Chromosomal band p13.2
Imprinted Unknown
Genomic reference NG_028016.3
Transcript reference NM_001379.2
Associated with diseases HSN-1E, ataxia, cerebellar, deafness, and narcolepsy
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 163
Unique public DNA variants reported 105
Individuals with public variants 12
Hidden variants 12
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created July 22, 2011
Date last updated September 15, 2020
Version DNMT1:200915

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Orphanet
HGNC 2976
Entrez Gene 1786
PubMed articles DNMT1
OMIM - Gene 126375
OMIM - Diseases HSN-1E (neuropathy, sensory, hereditary, type IE (HSN-1E))
ataxia, cerebellar, deafness, and narcolepsy
GeneCards DNMT1
GeneTests DNMT1

Active transcripts




NCBI ID     

NCBI Protein ID     

00006604 19 transcript variant 2 NM_001379.2 NP_001370.1 163

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 © 2011-2020. 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.