KMT2D c.13975C>T ;(p.R4659W)

Variant ID: 12-49424087-G-A

NM_003482.3(KMT2D):c.13975C>T;(p.R4659W)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: KMT2D: 13975C>T; Arg4659Trp
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Retrospective analyses of other iatrogenic immunodeficiency-associated lymphoproliferative disorders in patients with rheumatic diseases.

British Journal Of Haematology
Kaji, Daisuke D; Kusakabe, Manabu M; Sakata-Yanagimoto, Mamiko M; Makishima, Kenichi K; Suehara, Yasuhito Y; Hattori, Keiichiro K; Ota, Yasunori Y; Mitsuki, Takashi T; Yuasa, Mitsuhiro M; Kageyama, Kosei K; Taya, Yuki Y; Nishida, Aya A; Ishiwata, Kazuya K; Takagi, Shinsuke S; Yamamoto, Hisashi H; Asano-Mori, Yuki Y; Ubara, Yoshifumi Y; Izutsu, Koji K; Uchida, Naoyuki N; Wake, Atsushi A; Taniguchi, Shuichi S; Yamamoto, Go G; Chiba, Shigeru S
Publication Date: 2021-11

Variant appearance in text: KMT2D: R4659W
PubMed Link: 34558064
Variant Present in the following documents:
  • BJH-195-585-s002.xlsx, sheet 9
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: R4659W
PubMed Link: 33172502
Variant Present in the following documents:
  • 40478_2020_1066_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: KMT2D: R4659W
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_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: R4659W
PubMed Link: 31844144
Variant Present in the following documents:
  • 41375_2019_691_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Integrative analysis of genomic and transcriptomic characteristics associated with progression of aggressive thyroid cancer.

Nature Communications
Yoo, Seong-Keun SK; Song, Young Shin YS; Lee, Eun Kyung EK; Hwang, Jinha J; Kim, Hwan Hee HH; Jung, Gyeongseo G; Kim, Young A YA; Kim, Su-Jin SJ; Cho, Sun Wook SW; Won, Jae-Kyung JK; Chung, Eun-Jae EJ; Shin, Jong-Yeon JY; Lee, Kyu Eun KE; Kim, Jong-Il JI; Park, Young Joo YJ; Seo, Jeong-Sun JS
Publication Date: 2019-06-24

Variant appearance in text: KMT2D: R4659W
PubMed Link: 31235699
Variant Present in the following documents:
  • 41467_2019_10680_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page