DNMT3A c.1711del ;(p.A571Lfs*80)

Variant ID: 2-25467163-GC-G

NM_022552.4(DNMT3A):c.1711del;(p.A571Lfs*80)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Inherited heterozygous Fanconi anemia gene mutations in a therapy-related CMML patient with a rare NUP98-HOXC11 fusion: A case report.

Frontiers In Oncology
Shen, Kefeng K; Zhang, Meilan M; Wang, Jiachen J; Mu, Wei W; Wang, Jin J; Wang, Chunyan C; Xing, Shugang S; Hong, Zhenya Z; Xiao, Min M
Publication Date: 2022

Variant appearance in text: DNMT3A: A571Lfs*80
PubMed Link: 36338706
Variant Present in the following documents:
  • fonc-12-1036511.pdf
View BVdb publication page



Longitudinal profiling of clonal hematopoiesis provides insight into clonal dynamics.

Immunity & Ageing : I & A
Uddin, Md Mesbah MM; Zhou, Ying Y; Bick, Alexander G AG; Burugula, Bala Bharathi BB; Jaiswal, Siddhartha S; Desai, Pinkal P; Honigberg, Michael C MC; Love, Shelly-Ann SA; Barac, Ana A; Hayden, Kathleen M KM; Manson, JoAnn E JE; Whitsel, Eric A EA; Kooperberg, Charles C; Natarajan, Pradeep P; Reiner, Alexander P AP; Kitzman, Jacob O JO
Publication Date: 2022-05-24

Variant appearance in text: DNMT3A: 1711delG; A571Lfs*80
PubMed Link: 35610705
Variant Present in the following documents:
  • 12979_2022_278_MOESM2_ESM.xlsx, sheet 1
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: 1711delG; A571Lfs*80
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: DNMT3A: 1711delG; Ala571fs
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s5.xlsx, sheet 8
  • bty518_supplementary_data_s10.xlsx, sheet 8
View BVdb publication page