ATM c.496+448G>A

Variant ID: 11-108107009-G-A

NM_000051.3(ATM):c.496+448G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022

Variant appearance in text: ATM: 496+448G>A; rs228597
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



The most frequent Polish ATM mutations are not susceptibility factors for tobacco-related cancers.

Archives Of Medical Science : Ams
Podralska, Marta M; Dzikiewicz-Krawczyk, Agnieszka A; Mosor, Maria M; Żurawek, Magdalena M; Iżykowska, Katarzyna K; Słomski, Ryszard R; Rydzanicz, Małgorzata M; Gabryel, Piotr P; Dyszkiewicz, Wojciech W; Ziółkowska-Suchanek, Iwona I
Publication Date: 2021

Variant appearance in text: rs228597
PubMed Link: 34522244
Variant Present in the following documents:
  • Main text
  • AMS-17-5-97840.pdf
View BVdb publication page



The role of the ataxia telangiectasia mutated gene in lung cancer: recent advances in research.

Therapeutic Advances In Respiratory Disease
Xu, Yanling Y; Gao, Peng P; Lv, Xuejiao X; Zhang, Lin L; Zhang, Jie J
Publication Date: 2017-09

Variant appearance in text: rs228597
PubMed Link: 28825373
Variant Present in the following documents:
  • Main text
  • 10.1177_1753465817725716.pdf
View BVdb publication page



Genetic variation in DNA repair pathways and risk of non-Hodgkin's lymphoma.

Plos One
Rendleman, Justin J; Antipin, Yevgeniy Y; Reva, Boris B; Adaniel, Christina C; Przybylo, Jennifer A JA; Dutra-Clarke, Ana A; Hansen, Nichole N; Heguy, Adriana A; Huberman, Kety K; Borsu, Laetitia L; Paltiel, Ora O; Ben-Yehuda, Dina D; Brown, Jennifer R JR; Freedman, Arnold S AS; Sander, Chris C; Zelenetz, Andrew A; Klein, Robert J RJ; Shao, Yongzhao Y; Lacher, Mortimer M; Vijai, Joseph J; Offit, Kenneth K; Kirchhoff, Tomas T
Publication Date: 2014

Variant appearance in text: rs228597
PubMed Link: 25010664
Variant Present in the following documents:
  • Main text
  • pone.0101685.pdf
View BVdb publication page