KMT2D c.14897G>A ;(p.R4966Q)

Variant ID: 12-49420852-C-T

NM_003482.3(KMT2D):c.14897G>A;(p.R4966Q)

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: 14897G>A; R4966Q
PubMed Link: 35920016
Variant Present in the following documents:
  • CAC2-42-1217-s001.xlsx, sheet 6
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: 14897G>A; R4966Q
PubMed Link: 35142151
Variant Present in the following documents:
  • 2021_279908_WANG_TABS3.xlsx, sheet 7
View BVdb publication page



Immunogenomics of Colorectal Cancer Response to Checkpoint Blockade: Analysis of the KEYNOTE 177 Trial and Validation Cohorts.

Gastroenterology
Bortolomeazzi, Michele M; Keddar, Mohamed Reda MR; Montorsi, Lucia L; Acha-Sagredo, Amelia A; Benedetti, Lorena L; Temelkovski, Damjan D; Choi, Subin S; Petrov, Nedyalko N; Todd, Katrina K; Wai, Patty P; Kohl, Johannes J; Denner, Tamara T; Nye, Emma E; Goldstone, Robert R; Ward, Sophia S; Wilson, Gareth A GA; Al Bakir, Maise M; Swanton, Charles C; John, Susan S; Miles, James J; Larijani, Banafshe B; Kunene, Victoria V; Fontana, Elisa E; Arkenau, Hendrik-Tobias HT; Parker, Peter J PJ; Rodriguez-Justo, Manuel M; Shiu, Kai-Keen KK; Spencer, Jo J; Ciccarelli, Francesca D FD
Publication Date: 2021-10

Variant appearance in text: KMT2D: R4966Q
PubMed Link: 34197832
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: KMT2D: R4966Q
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 46
View BVdb publication page