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ATM c.3190A>G ;(p.M1064V)
Variant ID: 11-108143485-A-G
NM_000051.3(
ATM
):c.3190A>G;(p.M1064V)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022
Variant appearance in text: ATM: M1064V
PubMed Link:
36072793
Variant Present in the following documents:
Table_2.xlsx, sheet 1
View BVdb publication page
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: ATM: 3190A>G; M1064V; rs79431304
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.
Bmc Cancer
Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y
Publication Date: 2021-03-16
Variant appearance in text: ATM: 3190A>G; M1064V
PubMed Link:
33726687
Variant Present in the following documents:
12885_2021_7942_MOESM3_ESM.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: ATM: 3190A>G; Met1064Val; rs79431304
PubMed Link:
30287823
Variant Present in the following documents:
41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.
Neuroscience Bulletin
Xu, Xing-Xing XX; Luo, Jian-Hong JH
Publication Date: 2018-06
Variant appearance in text: ATD: 3190A>G
PubMed Link:
29124671
Variant Present in the following documents:
Main text
View BVdb publication page