DNMT3A c.1867del ;(p.Y623Tfs*28)

Variant ID: 2-25466835-TA-T

NM_022552.4(DNMT3A):c.1867del;(p.Y623Tfs*28)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 1867delT; Y623Tfs*28
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Erdheim-Chester disease associated with chronic myelomonocytic leukemia harboring the same clonal mutation.

Haematologica
Bonnet, Pauline P; Chasset, François F; Moguelet, Philippe P; Abisror, Noémie N; Itzykson, Raphaël R; Bouaziz, Jean-David JD; Hirsch, Pierre P; Barbaud, Annick A; Haroche, Julien J; Mekinian, Arsène A; Hélias-Rodzewicz, Zofia Z; Clappier, Emmanuelle E; Fenaux, Pierre P; Fain, Olivier O; Tazi, Abdellatif A; Emile, Jean-François JF; ,
Publication Date: 2019-11

Variant appearance in text: DNMT3A: 1867delT; Tyr623fs
PubMed Link: 31221777
Variant Present in the following documents:
  • Main text
View BVdb publication page