KMT2D c.1468G>T ;(p.E490*)

Variant ID: 12-49445998-C-A

NM_003482.3(KMT2D):c.1468G>T;(p.E490*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Diagnostic value of genetic mutation analysis and mutation profiling of cell-free DNA in intraocular fluid for vitreoretinal lymphoma.

Cancer Communications (London, England)
Chen, Xiaoqing X; Hu, Yunwei Y; Su, Wenru W; Yang, Shizhao S; Wang, Xiaoxiao X; Zhang, Ping P; Hong, Xiaoyu X; Liang, Chuqiao C; Qian, Zhuyun Z; Li, Ziqiang Z; Tao, Yong Y; Huang, Huiqiang H; Liang, Dan D
Publication Date: 2022-11

Variant appearance in text: KMT2D: 1468G>T; E490*
PubMed Link: 35920016
Variant Present in the following documents:
  • CAC2-42-1217-s001.xlsx, sheet 6
View BVdb publication page



Clonal dynamics of haematopoiesis across the human lifespan.

Nature
Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ
Publication Date: 2022-06

Variant appearance in text: KMT2D: E490*
PubMed Link: 35650442
Variant Present in the following documents:
  • 41586_2022_4786_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



A pilot study of the use of dynamic analysis of cell-free DNA from aqueous humor and vitreous fluid for the diagnosis and treatment monitoring of vitreoretinal lymphomas.

Haematologica
Wang, Xiaoxiao X; Su, Wenru W; Gao, Yan Y; Feng, Yanfen Y; Wang, Xiaoxia X; Chen, Xiaoqing X; Hu, Yunwei Y; Ma, Yutong Y; Ou, Qiuxiang Q; Liang, Dan D; Huang, Huiqiang H
Publication Date: 2022-09-01

Variant appearance in text: KMT2D: 1468G>T; E490*
PubMed Link: 35142151
Variant Present in the following documents:
  • 2021_279908_WANG_TABS3.xlsx, sheet 6
View BVdb publication page



Combinatorial Therapies in Thyroid Cancer: An Overview of Preclinical and Clinical Progresses.

Cells
Laetitia, Gheysen G; Sven, Saussez S; Fabrice, Journe J
Publication Date: 2020-03-30

Variant appearance in text: KMT2D: 1468G>T; Glu490Ter
PubMed Link: 32235612
Variant Present in the following documents:
  • Main text
  • cells-09-00830.pdf
View BVdb publication page