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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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