ATM c.5288_5289insGA ;(p.Y1763*)

Variant ID: 11-108172484-T-TAG

NM_000051.3(ATM):c.5288_5289insGA;(p.Y1763*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: ATM: 5288_5289insGA; Tyr1763Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.

Cancer Research And Treatment
Park, Ji Soo JS; Shin, Saeam S; Lee, Yoon Jung YJ; Lee, Seung-Tae ST; Nam, Eun Ji EJ; Han, Jung Woo JW; Lee, Sun Hwa SH; Kim, Tae Il TI; Park, Hyung Seok HS
Publication Date: 2022-10

Variant appearance in text: ATM: 5288_5289insGA; Tyr1763Ter
PubMed Link: 34793666
Variant Present in the following documents:
  • crt-2021-978_S2_Table.pdf
View BVdb publication page



Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.

Plos One
Kim, Borahm B; Lee, Hyeonah H; Jang, Jieun J; Kim, Soo-Jeong SJ; Lee, Seung-Tae ST; Cheong, June-Won JW; Lyu, Chuhl Joo CJ; Min, Yoo Hong YH; Choi, Jong Rak JR
Publication Date: 2019

Variant appearance in text: ATM: 5288_5289insGA
PubMed Link: 30840646
Variant Present in the following documents:
  • Main text
  • pone.0212228.s004.pdf
  • pone.0212228.pdf
View BVdb publication page