ATM c.2606C>A ;(p.A869E)

Variant ID: 11-108138037-C-A

NM_000051.3(ATM):c.2606C>A;(p.A869E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes.

Scientific Reports
Maurya, Nehakumari N; Mohanty, Purvi P; Dhangar, Somprakash S; Panchal, Purvi P; Jijina, Farah F; Mathan, S Leo Prince SLP; Shanmukhaiah, Chandrakala C; Madkaikar, Manisha M; Vundinti, Babu Rao BR
Publication Date: 2022-04-08

Variant appearance in text: ATM: 2606C>A; Ala869Glu
PubMed Link: 35396491
Variant Present in the following documents:
  • 41598_2022_9864_MOESM9_ESM.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: 2606C>A; A869E; rs145513717
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page