ATM c.8800A>G ;(p.T2934A)

Variant ID: 11-108225551-A-G

NM_000051.3(ATM):c.8800A>G;(p.T2934A)

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: 8800A>G; Thr2934Ala; rs746351323
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.

Npj Genomic Medicine
Wong, Edward S Y ESY; Shekar, Sandhya S; Met-Domestici, Marie M; Chan, Claire C; Sze, Melody M; Yap, Yoon Sim YS; Rozen, Steven G SG; Tan, Min-Han MH; Ang, Peter P; Ngeow, Joanne J; Lee, Ann S G ASG
Publication Date: 2016

Variant appearance in text: ATM: T2934A
PubMed Link: 29263802
Variant Present in the following documents:
  • Main text
  • npjgenmed20153.pdf
View BVdb publication page