DNMT3A c.2193_2196del ;(p.F731Lfs*47)

Variant ID: 2-25463296-CAAAG-C

NM_022552.4(DNMT3A):c.2193_2196del;(p.F731Lfs*47)

This variant was identified in 3 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: 2193_2196delCTTT; Phe731Leufs*47
PubMed Link: 37209535
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease.

Leukemia
Dawoud, Ahmed A Z AAZ; Gilbert, Rodney D RD; Tapper, William J WJ; Cross, Nicholas C P NCP
Publication Date: 2022-02

Variant appearance in text: DNMT3A: 2193_2196del; F731Lfs*47
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Clinical And Translational Medicine
Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J
Publication Date: 2020-11

Variant appearance in text: DNMT3A: 2193_2196delCTTT; F731Lfs*47
PubMed Link: 33252848
Variant Present in the following documents:
  • CTM2-10-e222-s003.xlsx, sheet 1
View BVdb publication page