KMT2A gene homepage

General information
Gene symbol KMT2A
Gene name lysine (K)-specific methyltransferase 2A
Chromosome 11
Chromosomal band q23
Imprinted Unknown
Genomic reference NG_027813.1
Transcript reference NM_001197104.1
Exon/intron information NM_001197104.1 exon/intron table
Associated with diseases KMT-2A, WDSTS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 177
Unique public DNA variants reported 165
Individuals with public variants 61
Hidden variants 14
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 May 03, 2013
Date last updated March 01, 2019
Version KMT2A:190301

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001197104.1.
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 http://www.LOVD.nl/KMT2A
HGNC 7132
Entrez Gene 4297
PubMed articles KMT2A
OMIM - Gene 159555
OMIM - Diseases KMT-2A (leukemia, myeloid/lymphoid or mixed-lineage (KMT-2A))
WDSTS (syndrome, Wiedemann-Steiner (WDSTS))
HGMD KMT2A
GeneCards KMT2A
GeneTests KMT2A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024085 11 transcript variant 1 NM_001197104.1 NP_001184033.1 177


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