rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
The DNMT3 family of mammalian de novo DNA methyltransferases.
21507354
2011
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
22495306
2012
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.
10555141
1999
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
The Tudor domain 'Royal Family': Tudor, plant Agenet, Chromo, PWWP and MBT domains.
12575993
2003
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.
27701732
2017
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei.
1423634
1992
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome.
16501171
2006
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons.
20228804
2010
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
21844811
2011
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
24614070
2014
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons.
17878930
2007
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.
10647011
1999
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
The human DNA methyltransferases DNMT3A and DNMT3B have two types of promoters with different CpG contents.
12359337
2002
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
28475857
2017
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
The NCBI BioSystems database.
19854944
2010
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy.
28667884
2017
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
28941052
2017
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Predictive motifs derived from cytosine methyltransferases.
2717398
1989
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.
28386848
2018
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Windows for sex-specific methylation marked by DNA methyltransferase expression profiles in mouse germ cells.
15063176
2004
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.
26866722
2016
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
DNMT3A mutations in acute myeloid leukemia.
21067377
2010
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.
27991732
2017
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
23849776
2013
rs147001633
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
Cloning, expression and chromosome locations of the human DNMT3 gene family.
10433969
1999