DNMT3A c.134C>T ;(p.A45V)

Variant ID: 2-25523051-G-A

NM_022552.4(DNMT3A):c.134C>T;(p.A45V)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.

Clinical Genetics
Ariste, Olivier O; de la Grange, Pierre P; Veitia, Reiner A RA
Publication Date: 2022-11-10

Variant appearance in text: DNMT3A: 134C>T
PubMed Link: 36353970
Variant Present in the following documents:
  • CGE-103-247-s001.xlsx, sheet 1
View BVdb publication page



Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.

Leukemia
Simonetti, Giorgia G; Mengucci, Carlo C; Padella, Antonella A; Fonzi, Eugenio E; Picone, Gianfranco G; Delpino, Claudio C; Nanni, Jacopo J; De Tommaso, Rossella R; Franchini, Eugenia E; Papayannidis, Cristina C; Marconi, Giovanni G; Pazzaglia, Martina M; Perricone, Margherita M; Scarpi, Emanuela E; Fontana, Maria Chiara MC; Bruno, Samantha S; Tebaldi, Michela M; Ferrari, Anna A; Bochicchio, Maria Teresa MT; Ghelli Luserna Di Rorà, Andrea A; Ghetti, Martina M; Napolitano, Roberta R; Astolfi, Annalisa A; Baldazzi, Carmen C; Guadagnuolo, Viviana V; Ottaviani, Emanuela E; Iacobucci, Ilaria I; Cavo, Michele M; Castellani, Gastone G; Haferlach, Torsten T; Remondini, Daniel D; Capozzi, Francesco F; Martinelli, Giovanni G
Publication Date: 2021-10

Variant appearance in text: DNMT3A: A45V
PubMed Link: 34193978
Variant Present in the following documents:
  • 41375_2021_1318_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



[Tatton-Brown-Rahman syndrome associated with the DNMT3A gene: a case report and literature review].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics
Chen, Min M; Li, Si-Tao ST; Cai, Yao Y; Xiao, Xin X; Shi, Cong-Cong CC; Hao, Hu H
Publication Date: 2020-10

Variant appearance in text: DNMT3A: 134C>T; A45V
PubMed Link: 33059810
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: DNMT3A: 134C>T; A45V
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page