MLH1 c.525A>C ;(p.K175N)

Variant ID: 3-37050376-A-C

NM_000249.3(MLH1):c.525A>C;(p.K175N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Cancer Science
Kage, Hidenori H; Shinozaki-Ushiku, Aya A; Ishigaki, Kazunaga K; Sato, Yusuke Y; Tanabe, Masahiko M; Tanaka, Shota S; Tanikawa, Michihiro M; Watanabe, Kousuke K; Kato, Shingo S; Akagi, Kiwamu K; Uchino, Keita K; Mitani, Kinuko K; Takahashi, Shunji S; Miura, Yuji Y; Ikeda, Sadakatsu S; Kojima, Yasushi Y; Watanabe, Kiyotaka K; Mochizuki, Hitoshi H; Yamaguchi, Hironori H; Kawazoe, Yoshimasa Y; Kashiwabara, Kosuke K; Kohsaka, Shinji S; Tatsuno, Kenji K; Ushiku, Tetsuo T; Ohe, Kazuhiko K; Yatomi, Yutaka Y; Seto, Yasuyuki Y; Aburatani, Hiroyuki H; Mano, Hiroyuki H; Miyagawa, Kiyoshi K; Oda, Katsutoshi K
Publication Date: 2023-01-05

Variant appearance in text: MLH1: 525A>C; K175N
PubMed Link: 36601953
Variant Present in the following documents:
  • CAS-114-1710-s001.xlsx, sheet 1
View BVdb publication page



Germline and somatic mutations of homologous recombination-associated genes in Japanese ovarian cancer patients.

Scientific Reports
Sugino, Kentaro K; Tamura, Ryo R; Nakaoka, Hirofumi H; Yachida, Nozomi N; Yamaguchi, Manako M; Mori, Yutaro Y; Yamawaki, Kaoru K; Suda, Kazuaki K; Ishiguro, Tatsuya T; Adachi, Sosuke S; Isobe, Masanori M; Yamaguchi, Masayuki M; Kashima, Katsunori K; Motoyama, Teiichi T; Inoue, Ituro I; Yoshihara, Kosuke K; Enomoto, Takayuki T
Publication Date: 2019-11-28

Variant appearance in text: MLH1: K175N
PubMed Link: 31780705
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_54116.pdf
View BVdb publication page