ATM c.7446G>T ;(p.M2482I)

Variant ID: 11-108201079-G-T

NM_000051.3(ATM):c.7446G>T;(p.M2482I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: ATM: M2482I
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Single-cell RNA-seq enables comprehensive tumour and immune cell profiling in primary breast cancer.

Nature Communications
Chung, Woosung W; Eum, Hye Hyeon HH; Lee, Hae-Ock HO; Lee, Kyung-Min KM; Lee, Han-Byoel HB; Kim, Kyu-Tae KT; Ryu, Han Suk HS; Kim, Sangmin S; Lee, Jeong Eon JE; Park, Yeon Hee YH; Kan, Zhengyan Z; Han, Wonshik W; Park, Woong-Yang WY
Publication Date: 2017-05-05

Variant appearance in text: ATM: 7446G>T; M2482I
PubMed Link: 28474673
Variant Present in the following documents:
  • ncomms15081-s2.xlsx, sheet 1
View BVdb publication page



The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

Breast Cancer Research And Treatment
Broeks, Annegien A; Braaf, Linde M LM; Huseinovic, Angelina A; Schmidt, Marjanka K MK; Russell, Nicola S NS; van Leeuwen, Flora E FE; Hogervorst, Frans B L FB; Van 't Veer, Laura J LJ
Publication Date: 2008-01

Variant appearance in text: ATM: M2482I
PubMed Link: 17393301
Variant Present in the following documents:
  • Main text
  • 10549_2007_Article_9543.pdf
View BVdb publication page