KMT2D c.7900C>T ;(p.Q2634*)

Variant ID: 12-49433653-G-A

NM_003482.3(KMT2D):c.7900C>T;(p.Q2634*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.

Leukemia
Simonetti, Giorgia G; Mengucci, Carlo C; Padella, Antonella A; Fonzi, Eugenio E; Picone, Gianfranco G; Delpino, Claudio C; Nanni, Jacopo J; De Tommaso, Rossella R; Franchini, Eugenia E; Papayannidis, Cristina C; Marconi, Giovanni G; Pazzaglia, Martina M; Perricone, Margherita M; Scarpi, Emanuela E; Fontana, Maria Chiara MC; Bruno, Samantha S; Tebaldi, Michela M; Ferrari, Anna A; Bochicchio, Maria Teresa MT; Ghelli Luserna Di RorĂ , Andrea A; Ghetti, Martina M; Napolitano, Roberta R; Astolfi, Annalisa A; Baldazzi, Carmen C; Guadagnuolo, Viviana V; Ottaviani, Emanuela E; Iacobucci, Ilaria I; Cavo, Michele M; Castellani, Gastone G; Haferlach, Torsten T; Remondini, Daniel D; Capozzi, Francesco F; Martinelli, Giovanni G
Publication Date: 2021-10

Variant appearance in text: KMT2D: Q2634X
PubMed Link: 34193978
Variant Present in the following documents:
  • 41375_2021_1318_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Spatial Heterogeneity in Large Resected Diffuse Large B-Cell Lymphoma Bulks Analysed by Massively Parallel Sequencing of Multiple Synchronous Biopsies.

Cancers
Magnes, Teresa T; Wagner, Sandro S; Thorner, Aaron R AR; Neureiter, Daniel D; Klieser, Eckhard E; Rinnerthaler, Gabriel G; Weiss, Lukas L; Huemer, Florian F; Schlick, Konstantin K; Zaborsky, Nadja N; Steiner, Markus M; Greil, Richard R; Egle, Alexander A; Melchardt, Thomas T
Publication Date: 2021-02-06

Variant appearance in text: KMT2D: 7900C>T
PubMed Link: 33561953
Variant Present in the following documents:
  • cancers-13-00650-s001.pdf
View BVdb publication page