ATM c.4303A>C ;(p.K1435Q)

Variant ID: 11-108160395-A-C

NM_000051.3(ATM):c.4303A>C;(p.K1435Q)

This variant was identified in 3 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: 4303A>C; K1435Q
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Mesonephric-Like Adenocarcinoma of the Endometrium: Diagnostic Advances to Spot This Wolf in Sheep's Clothing. A Review of the Literature.

Journal Of Clinical Medicine
Deolet, Ellen E; Van Dorpe, Jo J; Van de Vijver, Koen K
Publication Date: 2021-02-11

Variant appearance in text: ATM: 4303A>C
PubMed Link: 33670088
Variant Present in the following documents:
  • Main text
  • jcm-10-00698.pdf
View BVdb publication page



Mesonephric-like adenocarcinoma of the ovary with co-existent endometriosis: A case report and review of the literature.

Gynecologic Oncology Reports
Seay, Kieran K; Akanbi, Tracey T; Bustamante, Bethany B; Chaudhary, Shweta S; Goldberg, Gary L GL
Publication Date: 2020-11

Variant appearance in text: ATM: 4303A>C
PubMed Link: 33088886
Variant Present in the following documents:
  • main.pdf
View BVdb publication page