DNMT3A c.401del ;(p.N134Mfs*28)

Variant ID: 2-25505356-AT-A

NM_022552.4(DNMT3A):c.401del;(p.N134Mfs*28)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.

Esc Heart Failure
Kiefer, Katharina C KC; Cremer, Sebastian S; Pardali, Evangelia E; Assmus, Birgit B; Abou-El-Ardat, Khalil K; Kirschbaum, Klara K; Dorsheimer, Lena L; Rasper, Tina T; Berkowitsch, Alexander A; Serve, Hubert H; Dimmeler, Stefanie S; Zeiher, Andreas M AM; Rieger, Michael A MA
Publication Date: 2021-06

Variant appearance in text: DNMT3A: 401delA; N134fs
PubMed Link: 33779075
Variant Present in the following documents:
  • EHF2-8-1873-s002.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: 400delA; Asn134fs
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s10.xlsx, sheet 8
View BVdb publication page