|
rs147001633
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
|
24614070 |
2014 |
|
rs147001633
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome.
|
16501171 |
2006 |
|
rs147001633
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Predictive motifs derived from cytosine methyltransferases.
|
2717398 |
1989 |
|
rs147001633
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.
|
27701732 |
2017 |
|
rs147001633
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.
|
26866722 |
2016 |
|
rs147001633
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The Tudor domain 'Royal Family': Tudor, plant Agenet, Chromo, PWWP and MBT domains.
|
12575993 |
2003 |
|
rs147001633
|
|
Dysmorphic features
|
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
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The NCBI BioSystems database.
|
19854944 |
2010 |
|
rs147001633
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens.
|
20729844 |
2010 |
|
rs147001633
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
|
28475857 |
2017 |
|
rs147001633
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.
|
28386848 |
2018 |
|
rs147001633
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
|
28941052 |
2017 |
|
rs147001633
|
|
Dysmorphic features
|
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
|
|
Dysmorphic features
|
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
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The DNMT3 family of mammalian de novo DNA methyltransferases.
|
21507354 |
2011 |
|
rs147001633
|
|
Dysmorphic features
|
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
|
|
Dysmorphic features
|
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
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The human DNA methyltransferases DNMT3A and DNMT3B have two types of promoters with different CpG contents.
|
12359337 |
2002 |
|
rs147001633
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Dynamic expression of de novo DNA methyltransferases Dnmt3a and Dnmt3b in the central nervous system.
|
15672446 |
2005 |
|
rs147001633
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
|
19344873 |
2009 |
|
rs147001633
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Coordinate regulation of DNA methyltransferase expression during oogenesis.
|
17445268 |
2007 |
|
rs147001633
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Cloning, expression and chromosome locations of the human DNMT3 gene family.
|
10433969 |
1999 |
|
rs147001633
|
|
Dysmorphic features
|
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
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.
|
10555141 |
1999 |
|
rs147001633
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei.
|
1423634 |
1992 |