KMT2D c.7066C>T ;(p.Q2356*)

Variant ID: 12-49434487-G-A

NM_003482.3(KMT2D):c.7066C>T;(p.Q2356*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Feasibility and clinical utility of comprehensive genomic profiling of hematological malignancies.

Cancer Science
Fukuhara, Suguru S; Oshikawa-Kumade, Yuji Y; Kogure, Yasunori Y; Shingaki, Sumito S; Kariyazono, Hirokazu H; Kikukawa, Yoshiya Y; Koya, Junji J; Saito, Yuki Y; Tabata, Mariko M; Yoshifuji, Kota K; Mizuno, Kota K; Miyagi-Maeshima, Akiko A; Matsushita, Hiromichi H; Sugiyama, Masanaka M; Ogawa, Chitose C; Inamoto, Yoshihiro Y; Fukuda, Takahiro T; Sugano, Masato M; Yamauchi, Nobuhiko N; Minami, Yosuke Y; Hirata, Makoto M; Yoshida, Teruhiko T; Kohno, Takashi T; Kohsaka, Shinji S; Mano, Hiroyuki H; Shiraishi, Yuichi Y; Ogawa, Seishi S; Izutsu, Koji K; Kataoka, Keisuke K
Publication Date: 2022-08

Variant appearance in text: KMT2D: Q2356X
PubMed Link: 35579198
Variant Present in the following documents:
  • CAS-113-2763-s003.xlsx, sheet 10
View BVdb publication page



A genetically distinct pediatric subtype of primary CNS large B-cell lymphoma is associated with favorable clinical outcome.

Blood Advances
Güney, Ekin E; Lucas, Calixto-Hope G CG; Qi, Zhongxia Z; Yu, Jingwei J; Zhang, Ruth R; Ohgami, Robert S RS; Rubenstein, James L JL; Boué, Daniel R DR; Schafernak, Kristian K; Wertheim, Gerald B GB; Dahiya, Sonika S; Giulino-Roth, Lisa L; Attarbaschi, Andishe A; Barth, Matthew J MJ; Kothari, Shalin S; Abla, Oussama O; Cohen, Adam L AL; Mendez, Joe S JS; Bollen, Andrew A; Perry, Arie A; Tihan, Tarik T; Pekmezci, Melike M; Solomon, David A DA; Wen, Kwun Wah KW
Publication Date: 2022-05-24

Variant appearance in text: KMT2D: 7066C>T; Q2356*
PubMed Link: 35157770
Variant Present in the following documents:
  • advancesADV2021006018-suppl1.pdf
View BVdb publication page



Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease.

Leukemia
Dawoud, Ahmed A Z AAZ; Gilbert, Rodney D RD; Tapper, William J WJ; Cross, Nicholas C P NCP
Publication Date: 2022-02

Variant appearance in text: KMT2D: Q2356X
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Distinct mutation profiles between primary bladder cancer and circulating tumor cells warrant the use of circulating tumors cells as cellular resource for mutation follow-up.

Bmc Cancer
Kim, Tae-Min TM; Yoo, Jin-Seon JS; Moon, Hyong Woo HW; Hur, Kyung Jae KJ; Choi, Jin Bong JB; Hong, Sung-Hoo SH; Lee, Ji Youl JY; Ha, U-Syn US
Publication Date: 2020-12-07

Variant appearance in text: KMT2D: Q2356X
PubMed Link: 33287735
Variant Present in the following documents:
  • 12885_2020_7684_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.

Leukemia
Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ
Publication Date: 2020-05

Variant appearance in text: KMT2D: Q2356X
PubMed Link: 31844144
Variant Present in the following documents:
  • 41375_2019_691_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page