ATM c.4370T>A ;(p.L1457*)

Variant ID: 11-108160462-T-A

NM_000051.3(ATM):c.4370T>A;(p.L1457*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Germline genetic variants in men with prostate cancer and one or more additional cancers.

Cancer
PiliƩ, Patrick G PG; Johnson, Anna M AM; Hanson, Kristen L KL; Dayno, Megan E ME; Kapron, Ashley L AL; Stoffel, Elena M EM; Cooney, Kathleen A KA
Publication Date: 2017-10-15

Variant appearance in text: ATM: L1457X
PubMed Link: 28657667
Variant Present in the following documents:
  • Main text
View BVdb publication page



Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
LaDuca, Holly H; Stuenkel, A J AJ; Dolinsky, Jill S JS; Keiles, Steven S; Tandy, Stephany S; Pesaran, Tina T; Chen, Elaine E; Gau, Chia-Ling CL; Palmaer, Erika E; Shoaepour, Kamelia K; Shah, Divya D; Speare, Virginia V; Gandomi, Stephanie S; Chao, Elizabeth E
Publication Date: 2014-11

Variant appearance in text: ATM: L1457X
PubMed Link: 24763289
Variant Present in the following documents:
  • gim201440x3.xls, sheet 1
View BVdb publication page