KMT2D c.16372G>T ;(p.E5458*)

Variant ID: 12-49416103-C-A

NM_003482.3(KMT2D):c.16372G>T;(p.E5458*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood
Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD
Publication Date: 2022-10-06

Variant appearance in text: KMT2D: 16372G>T; E5458*
PubMed Link: 36201743
Variant Present in the following documents:
  • BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6
View BVdb publication page



Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02

Variant appearance in text: KMT2D: 16372G>T; E5458X
PubMed Link: 34494161
Variant Present in the following documents:
  • 428_2021_3186_MOESM21_ESM.xlsx, sheet 1
  • 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
View BVdb publication page



High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.

Leukemia
Pillonel, V V; Juskevicius, D D; Ng, C K Y CKY; Bodmer, A A; Zettl, A A; Jucker, D D; Dirnhofer, S S; Tzankov, A A
Publication Date: 2018-11

Variant appearance in text: KMT2D: 16372G>T; Glu5458Ter
PubMed Link: 29556019
Variant Present in the following documents:
  • 41375_2018_82_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page