|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.
|
26866722 |
2016 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Enzymatic properties of recombinant Dnmt3a DNA methyltransferase from mouse: the enzyme modifies DNA in a non-processive manner and also methylates non-CpG [correction of non-CpA] sites.
|
11399089 |
2001 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei.
|
1423634 |
1992 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens.
|
20729844 |
2010 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The DNMT3 family of mammalian de novo DNA methyltransferases.
|
21507354 |
2011 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse.
|
16725135 |
2006 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons.
|
20228804 |
2010 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
DNA methyltransferase expression in the mouse germ line during periods of de novo methylation.
|
15739230 |
2005 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors.
|
10325416 |
1999 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The Tudor domain 'Royal Family': Tudor, plant Agenet, Chromo, PWWP and MBT domains.
|
12575993 |
2003 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Windows for sex-specific methylation marked by DNA methyltransferase expression profiles in mouse germ cells.
|
15063176 |
2004 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.
|
10555141 |
1999 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The Polycomb group protein EZH2 directly controls DNA methylation.
|
16357870 |
2006 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.
|
27701732 |
2017 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Cloning, expression and chromosome locations of the human DNMT3 gene family.
|
10433969 |
1999 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
|
28475857 |
2017 |
|
rs147001633
|
|
Muscle hypotonia
|
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
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Coordinate regulation of DNA methyltransferase expression during oogenesis.
|
17445268 |
2007 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.
|
10647011 |
1999 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes.
|
20651149 |
2010 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
|
23849776 |
2013 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A novel Dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its expression correlates with active de novo methylation.
|
12138111 |
2002 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
|
22495306 |
2012 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The human DNA methyltransferases DNMT3A and DNMT3B have two types of promoters with different CpG contents.
|
12359337 |
2002 |
|
rs147001633
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
|
28941052 |
2017 |