DNMT3A c.2303del ;(p.D768Afs*11)

Variant ID: 2-25463190-GT-G

NM_022552.4(DNMT3A):c.2303del;(p.D768Afs*11)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08

Variant appearance in text: DNMT3A: D768Afs*11
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life.

American Journal Of Human Genetics
Acuna-Hidalgo, Rocio R; Sengul, Hilal H; Steehouwer, Marloes M; van de Vorst, Maartje M; Vermeulen, Sita H SH; Kiemeney, Lambertus A L M LALM; Veltman, Joris A JA; Gilissen, Christian C; Hoischen, Alexander A
Publication Date: 2017-07-06

Variant appearance in text: DNMT3A: 2303del; Asp768fs
PubMed Link: 28669404
Variant Present in the following documents:
  • Main text
View BVdb publication page