DNMT3A c.2307C>G ;(p.I769M)

Variant ID: 2-25463186-G-C

NM_022552.4(DNMT3A):c.2307C>G;(p.I769M)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity.

Ebiomedicine
Andersson-Assarsson, Johanna C JC; van Deuren, Rosanne C RC; Kristensson, Felipe M FM; Steehouwer, Marloes M; Sjöholm, Kajsa K; Svensson, Per-Arne PA; Pieterse, Marc M; Gilissen, Christian C; Taube, Magdalena M; Jacobson, Peter P; Perkins, Rosie R; Brunner, Han G HG; Netea, Mihai G MG; Peltonen, Markku M; Carlsson, Björn B; Hoischen, Alexander A; Carlsson, Lena M S LMS
Publication Date: 2023-05-18

Variant appearance in text: DNMT3A: 2307C>G; Ile769Met
PubMed Link: 37209535
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



A Phenogenetic Axis that Modulates Clinical Manifestation and Predicts Treatment Outcome in Primary Myeloid Neoplasms.

Cancer Research Communications
Shen, Qiujin Q; Feng, Yahui Y; Gong, Xiaowen X; Jia, Yujiao Y; Gao, Qingyan Q; Jiao, Xiaokang X; Qi, Saibing S; Liu, Xueou X; Wei, Hui H; Huang, Bingqing B; Zhao, Ningning N; Song, Xiaoqiang X; Ma, Yueshen Y; Liang, Shihao S; Zhang, Donglei D; Qin, Li L; Wang, Ying Y; Qu, Shiqiang S; Zou, Yao Y; Chen, Yumei Y; Guo, Ye Y; Yi, Shuhua S; An, Gang G; Jiao, Zengtao Z; Zhang, Song S; Li, Linfeng L; Yan, Jun J; Wang, Huijun H; Song, Zhen Z; Mi, Yingchang Y; Qiu, Lugui L; Zhu, Xiaofan X; Wang, Jianxiang J; Xiao, Zhijian Z; Chen, Junren J
Publication Date: 2022-04

Variant appearance in text: DNMT3A: 2307C>G; I769M
PubMed Link: 36873623
Variant Present in the following documents:
  • crc-21-0194-s05.xlsx, sheet 1
View BVdb publication page



The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature
Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS
Publication Date: 2022-06

Variant appearance in text: DNMT3A: I769M
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM9_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM11_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Clonal Hematopoiesis of Indeterminate Potential and Diabetic Kidney Disease: A Nested Case-Control Study.

Kidney International Reports
Denicolò, Sara S; Vogi, Verena V; Keller, Felix F; Thöni, Stefanie S; Eder, Susanne S; Heerspink, Hiddo J L HJL; Rosivall, László L; Wiecek, Andrzej A; Mark, Patrick B PB; Perco, Paul P; Leierer, Johannes J; Kronbichler, Andreas A; Steger, Marion M; Schwendinger, Simon S; Zschocke, Johannes J; Mayer, Gert G; Jukic, Emina E
Publication Date: 2022-04

Variant appearance in text: DNMT3A: 2307C>G; Ile769Met
PubMed Link: 35497780
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page