KEGG   VARIANT: 1788v1
Entry
1788v1                      Variant                                
Name
DNMT3A deficiency
Type
Loss of function
Gene
DNMT3A  DNA methyltransferase 3 alpha [KO:K17398]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602769
Network
nt06535  Efferocytosis
Disease
H00003  Acute myeloid leukemia
H02294  Tatton-Brown-Rahman syndrome
Reference
  Authors
Tatton-Brown K, Seal S, Ruark E, Harmer J, Ramsay E, Del Vecchio Duarte S, Zachariou A, Hanks S, O'Brien E, Aksglaede L, Baralle D, Dabir T, Gener B, Goudie D, Homfray T, Kumar A, Pilz DT, Selicorni A, Temple IK, Van Maldergem L, Yachelevich N, van Montfort R, Rahman N
  Title
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
  Journal
Nat Genet 46:385-8 (2014)
DOI:10.1038/ng.2917
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