ATM c.5765C>A ;(p.P1922H)

Variant ID: 11-108180889-C-A

NM_000051.3(ATM):c.5765C>A;(p.P1922H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine
Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B
Publication Date: 2021-12

Variant appearance in text: ATM: P1922H
PubMed Link: 34839264
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page



Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine
Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B
Publication Date: 2021-11-25

Variant appearance in text: ATM: P1922H
PubMed Link: 34839264
Variant Present in the following documents:
  • mmc5.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: 5765C>A; Pro1922His; rs751792004
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Heterogeneous responses and resistant mechanisms to crizotinib in ALK-positive advanced non-small cell lung cancer.

Thoracic Cancer
Kang, Jin J; Chen, Hua-Jun HJ; Zhang, Xu-Chao XC; Su, Jian J; Zhou, Qing Q; Tu, Hai-Yan HY; Wang, Zhen Z; Wang, Bin-Chao BC; Zhong, Wen-Zhao WZ; Yang, Xue-Ning XN; Chen, Zhi-Hong ZH; Ding, Yan Y; Wu, Xue X; Wang, Mei M; Fu, Jian-Gang JG; Yang, Zhenfan Z; Zhang, Xian X; Shao, Yang W YW; Wu, Yi-Long YL; Yang, Jin-Ji JJ
Publication Date: 2018-09

Variant appearance in text: ATM: P1922H
PubMed Link: 29978950
Variant Present in the following documents:
  • TCA-9-1093-s006.xlsx, sheet 1
View BVdb publication page



Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics
Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C
Publication Date: 2018-04

Variant appearance in text: ATM: P1922H
PubMed Link: 29684080
Variant Present in the following documents:
  • pgen.1007352.s010.xlsx, sheet 1
View BVdb publication page