KMT2D c.7462T>C ;(p.S2488P)

Variant ID: 12-49434091-A-G

NM_003482.3(KMT2D):c.7462T>C;(p.S2488P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The evolution of relapse of adult T cell acute lymphoblastic leukemia.

Genome Biology
Sentís, Inés I; Gonzalez, Santiago S; Genescà, Eulalia E; García-Hernández, Violeta V; Muiños, Ferran F; Gonzalez, Celia C; López-Arribillaga, Erika E; Gonzalez, Jessica J; Fernandez-Ibarrondo, Lierni L; Mularoni, Loris L; Espinosa, Lluís L; Bellosillo, Beatriz B; Ribera, Josep-Maria JM; Bigas, Anna A; Gonzalez-Perez, Abel A; Lopez-Bigas, Nuria N
Publication Date: 2020-11-23

Variant appearance in text: KMT2D: S2488P
PubMed Link: 33225950
Variant Present in the following documents:
  • 13059_2020_2192_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Genetic modification of primary human B cells to model high-grade lymphoma.

Nature Communications
Caeser, Rebecca R; Di Re, Miriam M; Krupka, Joanna A JA; Gao, Jie J; Lara-Chica, Maribel M; Dias, João M L JML; Cooke, Susanna L SL; Fenner, Rachel R; Usheva, Zelvera Z; Runge, Hendrik F P HFP; Beer, Philip A PA; Eldaly, Hesham H; Pak, Hyo-Kyung HK; Park, Chan-Sik CS; Vassiliou, George S GS; Huntly, Brian J P BJP; Mupo, Annalisa A; Bashford-Rogers, Rachael J M RJM; Hodson, Daniel J DJ
Publication Date: 2019-10-04

Variant appearance in text: KMT2D: 7462T>C; Ser2488Pro
PubMed Link: 31586074
Variant Present in the following documents:
  • 41467_2019_12494_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page