DNMT3A c.2461del ;(p.H821Mfs*4)

Variant ID: 2-25459822-TG-T

NM_022552.4(DNMT3A):c.2461del;(p.H821Mfs*4)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 2461del; His821Metfs*4
PubMed Link: 36184726
Variant Present in the following documents:
  • 11357_2022_666_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Acta Neuropathologica Communications
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A
Publication Date: 2021-12-24

Variant appearance in text: DNMT3A: 2461del
PubMed Link: 34952640
Variant Present in the following documents:
  • 40478_2021_1304_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Acta Neuropathologica Communications
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A
Publication Date: 2021-12-24

Variant appearance in text: DNMT3A: 2461del
PubMed Link: 34952640
Variant Present in the following documents:
  • 40478_2021_1304_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page