ATM c.323C>G ;(p.A108G)

Variant ID: 11-108100042-C-G

NM_000051.3(ATM):c.323C>G;(p.A108G)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: 323C>G; A108G; rs766951228
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Aging
Chen, Bo B; Zhang, Guochun G; Li, Xuerui X; Ren, Chongyang C; Wang, Yulei Y; Li, Kai K; Mok, Hsiaopei H; Cao, Li L; Wen, Lingzhu L; Jia, Minghan M; Li, Cheukfai C; Guo, Liping L; Wei, Guangnan G; Lin, Jiali J; Li, Yingzi Y; Zhang, Yuchen Y; Han-Zhang, Han H; Liu, Jing J; Lizaso, Analyn A; Liao, Ning N
Publication Date: 2020-02-24

Variant appearance in text: ATM: 323C>G; A108G; rs766951228
PubMed Link: 32091409
Variant Present in the following documents:
  • aging-12-102783-s001..xlsx, sheet 1
View BVdb publication page



Integrative analysis of genomic and transcriptomic characteristics associated with progression of aggressive thyroid cancer.

Nature Communications
Yoo, Seong-Keun SK; Song, Young Shin YS; Lee, Eun Kyung EK; Hwang, Jinha J; Kim, Hwan Hee HH; Jung, Gyeongseo G; Kim, Young A YA; Kim, Su-Jin SJ; Cho, Sun Wook SW; Won, Jae-Kyung JK; Chung, Eun-Jae EJ; Shin, Jong-Yeon JY; Lee, Kyu Eun KE; Kim, Jong-Il JI; Park, Young Joo YJ; Seo, Jeong-Sun JS
Publication Date: 2019-06-24

Variant appearance in text: ATM: A108G
PubMed Link: 31235699
Variant Present in the following documents:
  • 41467_2019_10680_MOESM5_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: 323C>G; Ala108Gly; rs766951228
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page