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ATM c.3003A>C ;(p.L1001=)
Variant ID: 11-108142059-A-C
NM_000051.3(
ATM
):c.3003A>C;(p.L1001=)
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:
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: ATM: L1001L; rs765969190
PubMed Link:
35218119
Variant Present in the following documents:
CAS-113-1451-s002.xlsx, sheet 1
View BVdb publication page
Targeted deep sequencing from multiple sources demonstrates increased NOTCH1 alterations in lung cancer patient plasma.
Cancer Medicine
Liao, Yuwei Y; Ma, Zhaokui Z; Zhang, Yu Y; Li, Dan D; Lv, Dekang D; Chen, Zhisheng Z; Li, Peiying P; Ai-Dherasi, Aisha A; Zheng, Feng F; Tian, Jichao J; Zou, Kun K; Wang, Yue Y; Wang, Dongxia D; Cordova, Miguel M; Zhou, Huan H; Li, Xiuhua X; Liu, Dan D; Yu, Ruofei R; Zhang, Qingzheng Q; Zhang, Xiaolong X; Zhang, Jian J; Zhang, Xuehong X; Zhang, Xia X; Li, Yulong Y; Shao, Yanyan Y; Song, Luyao L; Liu, Ruimei R; Wang, Yichen Y; Sufiyan, Sufiyan S; Liu, Quentin Q; Owen, Gareth I GI; Li, Zhiguang Z; Chen, Jun J
Publication Date: 2019-09
Variant appearance in text: ATM: L1001L
PubMed Link:
31369215
Variant Present in the following documents:
CAM4-8-5673-s008.xlsx, sheet 5
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: ATM: Leu1001Leu; rs765969190
PubMed Link:
30287823
Variant Present in the following documents:
41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page