DNMT3A, DNA methyltransferase 3 alpha, 1788

N. diseases: 350; N. variants: 56
Disease: Tatton Brown Rahman syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs757823678
rs757823678
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C4014545
Disease:
Tatton Brown Rahman syndrome 		0.810 GeneticVariation BEFREE We profiled genome-wide DNA methylation patterns in <i>DNMT3A</i> c.2312G > A; p.(Arg771Gln) carriers in a large Amish sibship with Tatton-Brown-Rahman syndrome (TBRS), their mosaic father, and 15 TBRS patients with distinct pathogenic de novo <i>DNMT3A</i> variants. 31160375 2019
dbSNP: rs757823678
rs757823678
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C4014545
Disease:
Tatton Brown Rahman syndrome 		0.810 GeneticVariation UNIPROT Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. 27701732 2017
dbSNP: rs757823678
rs757823678
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C4014545
Disease:
Tatton Brown Rahman syndrome 		0.810 GeneticVariation UNIPROT SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort. 27317772 2016
dbSNP: rs757823678
rs757823678
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C4014545
Disease:
Tatton Brown Rahman syndrome 		0.810 GeneticVariation UNIPROT Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070 2014
dbSNP: rs757823678
rs757823678
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C4014545
Disease:
Tatton Brown Rahman syndrome 		T 0.810 GeneticVariation CLINVAR