MSH2 c.2455A>T ;(p.K819*)

Variant ID: 2-47705655-A-T

NM_000251.2(MSH2):c.2455A>T;(p.K819*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Japanese Society for Cancer of the Colon and Rectum (JSCCR) Guidelines 2016 for the Clinical Practice of Hereditary Colorectal Cancer (Translated Version).

Journal Of The Anus, Rectum And Colon
Ishida, Hideyuki H; Yamaguchi, Tatsuro T; Tanakaya, Kohji K; Akagi, Kiwamu K; Inoue, Yasuhiro Y; Kumamoto, Kensuke K; Shimodaira, Hideki H; Sekine, Shigeki S; Tanaka, Toshiaki T; Chino, Akiko A; Tomita, Naohiro N; Nakajima, Takeshi T; Hasegawa, Hirotoshi H; Hinoi, Takao T; Hirasawa, Akira A; Miyakura, Yasuyuki Y; Murakami, Yoshie Y; Muro, Kei K; Ajioka, Yoichi Y; Hashiguchi, Yojiro Y; Ito, Yoshinori Y; Saito, Yutaka Y; Hamaguchi, Tetsuya T; Ishiguro, Megumi M; Ishihara, Soichiro S; Kanemitsu, Yukihide Y; Kawano, Hiroshi H; Kinugasa, Yusuke Y; Kokudo, Norihiro N; Murofushi, Keiko K; Nakajima, Takako T; Oka, Shiro S; Sakai, Yoshiharu Y; Tsuji, Akihiko A; Uehara, Keisuke K; Ueno, Hideki H; Yamazaki, Kentaro K; Yoshida, Masahiro M; Yoshino, Takayuki T; Boku, Narikazu N; Fujimori, Takahiro T; Itabashi, Michio M; Koinuma, Nobuo N; Morita, Takayuki T; Nishimura, Genichi G; Sakata, Yuh Y; Shimada, Yasuhiro Y; Takahashi, Keiichi K; Tanaka, Shinji S; Tsuruta, Osamu O; Yamaguchi, Toshiharu T; Sugihara, Kenichi K; Watanabe, Toshiaki T; ,
Publication Date: 2018

Variant appearance in text: MSH2: 2455A>T
PubMed Link: 31773066
Variant Present in the following documents:
  • Main text
  • 2432-3853-2-S1.pdf
View BVdb publication page



High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12

Variant appearance in text: MSH2: Lys819Ter
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4
View BVdb publication page