ATM c.1126_1127del ;(p.E376Ifs*2)

Variant ID: 11-108119716-AAG-A

NM_000051.3(ATM):c.1126_1127del;(p.E376Ifs*2)

This variant was identified in 2 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: 1126_1127delGA; Glu376Ilefs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.

Oncotarget
Chan, Gloria H J GHJ; Ong, Pei Yi PY; Low, Jeffrey J H JJH; Kong, Hwai Loong HL; Ow, Samuel G W SGW; Tan, David S P DSP; Lim, Yi Wan YW; Lim, Siew Eng SE; Lee, Soo-Chin SC
Publication Date: 2018-07-17

Variant appearance in text: ATM: 1126_1127delGA
PubMed Link: 30093976
Variant Present in the following documents:
  • Main text
  • oncotarget-09-30649.pdf
View BVdb publication page