KMT2D c.15472G>T ;(p.E5158*)

Variant ID: 12-49420277-C-A

NM_003482.3(KMT2D):c.15472G>T;(p.E5158*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrative multi-omics and drug response profiling of childhood acute lymphoblastic leukemia cell lines.

Nature Communications
Leo, Isabelle Rose IR; Aswad, Luay L; Stahl, Matthias M; Kunold, Elena E; Post, Frederik F; Erkers, Tom T; Struyf, Nona N; Mermelekas, Georgios G; Joshi, Rubin Narayan RN; Gracia-Villacampa, Eva E; Östling, Päivi P; Kallioniemi, Olli P OP; Tamm, Katja Pokrovskaja KP; Siavelis, Ioannis I; Lehtiö, Janne J; Vesterlund, Mattias M; Jafari, Rozbeh R
Publication Date: 2022-03-30

Variant appearance in text: KMT2D: E5158*
PubMed Link: 35354797
Variant Present in the following documents:
  • 41467_2022_29224_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page



Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23

Variant appearance in text: KMT2D: E5158X
PubMed Link: 35197475
Variant Present in the following documents:
  • 41467_2022_28566_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page