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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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