DNMT3A c.2056del ;(p.D686Tfs*19)

Variant ID: 2-25464456-TC-T

NM_022552.4(DNMT3A):c.2056del;(p.D686Tfs*19)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Case report: A combined immunotherapy strategy as a promising therapy for MSI-H colorectal carcinomas with multiple HPD risk factors.

Frontiers In Medicine
Zhang, Jinli J; Yang, Lu L; Kong, Fanwei F; Wu, Di D; Hu, Baoru B; Yang, Jie J; He, Jiaxin J; Liu, Lei L
Publication Date: 2023

Variant appearance in text: DNMT3A: D686Tfs*19
PubMed Link: 37215717
Variant Present in the following documents:
  • Main text
  • fmed-10-1051034.pdf
View BVdb publication page



Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years.

Geroscience
Del Pozo-Valero, Marta M; Corton, Marta M; López-Rodríguez, Rosario R; Mahillo-Fernández, Ignacio I; Ruiz-Hornillos, Javier J; Minguez, Pablo P; Villaverde, Cristina C; Pérez-Tomás, María Elena ME; Barreda-Sánchez, María M; Mancebo, Esther E; , ; Paz-Artal, Estela E; Guillén-Navarro, Encarna E; Almoguera, Berta B; Ayuso, Carmen C
Publication Date: 2022-10-03

Variant appearance in text: DNMT3A: 2056del; Asp686Thrfs*19
PubMed Link: 36184726
Variant Present in the following documents:
  • 11357_2022_666_MOESM1_ESM.xlsx, sheet 2
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: 2055delG; Asp686fs
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s10.xlsx, sheet 8
View BVdb publication page



The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Wellcome Open Research
Tatton-Brown, Katrina K; Zachariou, Anna A; Loveday, Chey C; Renwick, Anthony A; Mahamdallie, Shazia S; Aksglaede, Lise L; Baralle, Diana D; Barge-Schaapveld, Daniela D; Blyth, Moira M; Bouma, Mieke M; Breckpot, Jeroen J; Crabb, Beau B; Dabir, Tabib T; Cormier-Daire, Valerie V; Fauth, Christine C; Fisher, Richard R; Gener, Blanca B; Goudie, David D; Homfray, Tessa T; Hunter, Matthew M; Jorgensen, Agnete A; Kant, Sarina G SG; Kirally-Borri, Cathy C; Koolen, David D; Kumar, Ajith A; Labilloy, Anatalia A; Lees, Melissa M; Marcelis, Carlo C; Mercer, Catherine C; Mignot, Cyril C; Miller, Kathryn K; Neas, Katherine K; Newbury-Ecob, Ruth R; Pilz, Daniela T DT; Posmyk, Renata R; Prada, Carlos C; Ramsey, Keri K; Randolph, Linda M LM; Selicorni, Angelo A; Shears, Deborah D; Suri, Mohnish M; Temple, I Karen IK; Turnpenny, Peter P; Val Maldergem, Lionel L; Varghese, Vinod V; Veenstra-Knol, Hermine E HE; Yachelevich, Naomi N; Yates, Laura L; , ; , ; Rahman, Nazneen N
Publication Date: 2018

Variant appearance in text: DNMT3A: 2056delG
PubMed Link: 29900417
Variant Present in the following documents:
  • Main text
  • wellcomeopenres-3-15708.pdf
View BVdb publication page