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MLH1 c.453+717del
Variant ID: 3-37049271-CT-C
NM_000249.3(
MLH1
):c.453+717del
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Two Cases of Thymic Cancer in Patients with Lynch Syndrome.
Internal Medicine (Tokyo, Japan)
Watanabe, Mototsugu M; Tanakaya, Kohji K; Furukawa, Shinichi S; Shiotani, Toshio T; Sato, Yumiko Y; Taniguchi, Fumitaka F; Kanaya, Nobuhiko N; Aoki, Hideki H; Sugano, Koukichi K; Ishida, Hideyuki H; Akagi, Kiwamu K; Kataoka, Kazuhiko K
Publication Date: 2022-07-29
Variant appearance in text: MLH1: 453+717del
PubMed Link:
35908972
Variant Present in the following documents:
1349-7235-62-0649.pdf
View BVdb publication page
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: MLH1: 453+717del
PubMed Link:
31773066
Variant Present in the following documents:
Main text
View BVdb publication page
Metachronous colorectal carcinoma with massive submucosal invasion detected by annual surveillance in a Lynch syndrome patient: a case report.
World Journal Of Surgical Oncology
Utsumi, Masashi M; Tanakaya, Kohji K; Mushiake, Yutaka Y; Kunitomo, Tomoyoshi T; Yasuhara, Isao I; Taniguchi, Fumitaka F; Arata, Takashi T; Katsuda, Koh K; Aoki, Hideki H; Takeuchi, Hitoshi H
Publication Date: 2017-08-01
Variant appearance in text: MLH1: 453+717del
PubMed Link:
28764791
Variant Present in the following documents:
Main text
12957_2017_Article_1207.pdf
View BVdb publication page