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CHEK2 c.72C>T ;(p.S24=)
Variant ID: 22-29130638-G-A
NM_007194.3(
CHEK2
):c.72C>T;(p.S24=)
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:
Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.
Cancer Science
Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K
Publication Date: 2022-04
Variant appearance in text: CHEK2: 72C>T; S24S; rs759679862
PubMed Link:
35218119
Variant Present in the following documents:
CAS-113-1451-s002.xlsx, sheet 1
View BVdb publication page
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04
Variant appearance in text: CHEK2: 72C>T; Ser24Ser; rs759679862
PubMed Link:
30287823
Variant Present in the following documents:
41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page