The MLL3 gene homepage

NOTE: gene name changed from MLL3 to KMT2C
General information
Gene symbol MLL3
Gene name myeloid/lymphoid or mixed-lineage leukemia 3
Chromosome 7
Chromosomal band q36
Imprinted Unknown
Genomic reference NC_000007.13
Transcript reference NM_170606.2
Associated with diseases KLEFS, KLEFS2
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 188
Unique public DNA variants reported 137
Individuals with public variants 59
Hidden variants 16
Download all this gene's data Download all data
Notes NOTE: gene name changed from MLL3 to KMT2C
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated November 29, 2021
Version MLL3:211129

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
HGNC 13726
Entrez Gene 58508
PubMed articles MLL3
OMIM - Gene 606833
OMIM - Diseases KLEFS2 (syndrome, Kleefstra, type 2 (KLEFS2))
GeneCards MLL3
GeneTests MLL3
Orphanet MLL3

Active transcripts




NCBI ID     

NCBI Protein ID     

00013684 7 myeloid/lymphoid or mixed-lineage leukemia 3 NM_170606.2 NP_733751.2 188

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 © 2013-2021. 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.

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