KMT2D c.11596C>T ;(p.Q3866*)

Variant ID: 12-49426892-G-A

NM_003482.3(KMT2D):c.11596C>T;(p.Q3866*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Cancer Medicine
Gao, Fan F; Hu, Kai K; Zheng, Peihao P; Shi, Hui H; Ke, Xiaoyan X
Publication Date: 2023-03-27

Variant appearance in text: KMT2D: 11596C>T; Q3866X
PubMed Link: 36971051
Variant Present in the following documents:
  • CAM4-12-10267-s001.xlsx, sheet 1
View BVdb publication page



Genetic landscapes and curative effect of CAR T-cell immunotherapy in relapse and refractory DLBCL patients.

Blood Advances
Shi, Hui H; Zheng, Peihao P; Liu, Rui R; Xu, Teng T; Yang, Fan F; Feng, Shaomei S; Guo, Yuelu Y; Ma, Lixia L; Liu, Haidi H; Lei, Yang Y; Li, Ruiting R; Deng, Biping B; Hou, Shuling S; Li, Yang Y; Zheng, Qinlong Q; Hu, Kai K; Ke, Xiaoyan X
Publication Date: 2022-07-28

Variant appearance in text: KMT2D: 11596C>T; Q3866X
PubMed Link: 35901280
Variant Present in the following documents:
  • BLOODA_ADV-2021-006845-mmc1.xlsx, sheet 2
View BVdb publication page



Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.

Frontiers In Genetics
Gao, Fan F; Tian, Lei L; Shi, Hui H; Zheng, Peihao P; Wang, Jing J; Dong, Fei F; Hu, Kai K; Ke, Xiaoyan X
Publication Date: 2021

Variant appearance in text: KMT2D: 11596C>T; Q3866X
PubMed Link: 34925435
Variant Present in the following documents:
  • DataSheet2.xlsx, sheet 1
View BVdb publication page



Clinical and mutational profiles of adult medulloblastoma groups.

Acta Neuropathologica Communications
Wong, Gabriel Chun-Hei GC; Li, Kay Ka-Wai KK; Wang, Wei-Wei WW; Liu, Anthony Pak-Yin AP; Huang, Queenie Junqi QJ; Chan, Aden Ka-Yin AK; Poon, Manix Fung-Man MF; Chung, Nellie Yuk-Fei NY; Wong, Queenie Hoi-Wing QH; Chen, Hong H; Chan, Danny Tat Ming DTM; Liu, Xian-Zhi XZ; Mao, Ying Y; Zhang, Zhen-Yu ZY; Shi, Zhi-Feng ZF; Ng, Ho-Keung HK
Publication Date: 2020-11-10

Variant appearance in text: KMT2D: Q3866X
PubMed Link: 33172502
Variant Present in the following documents:
  • 40478_2020_1066_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.

Epigenetics
Aref-Eshghi, Erfan E; Schenkel, Laila C LC; Lin, Hanxin H; Skinner, Cindy C; Ainsworth, Peter P; Paré, Guillaume G; Rodenhiser, David D; Schwartz, Charles C; Sadikovic, Bekim B
Publication Date: 2017

Variant appearance in text: KMT2D: 11596C>T; Q3866X
PubMed Link: 28933623
Variant Present in the following documents:
  • Main text
View BVdb publication page