ATM c.3980T>A ;(p.L1327*)

Variant ID: 11-108155187-T-A

NM_000051.3(ATM):c.3980T>A;(p.L1327*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Evaluation of Commercial Circulating Tumor DNA Test in Metastatic Prostate Cancer.

Jco Precision Oncology
Taavitsainen, Sinja S; Annala, Matti M; Ledet, Elisa E; Beja, Kevin K; Miller, Patrick J PJ; Moses, Marcus M; Nykter, Matti M; Chi, Kim N KN; Sartor, Oliver O; Wyatt, Alexander W AW
Publication Date: 2019

Variant appearance in text: ATM: L1327X
PubMed Link: 32914020
Variant Present in the following documents:
  • PO.19.00014.pdf
View BVdb publication page



Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways.

Journal Of The Endocrine Society
Clarke, Callisia N CN; Katsonis, Panagiotis P; Hsu, Teng-Kuei TK; Koire, Amanda M AM; Silva-Figueroa, Angelica A; Christakis, Ioannis I; Williams, Michelle D MD; Kutahyalioglu, Merve M; Kwatampora, Lily L; Xi, Yuanxin Y; Lee, Jeffrey E JE; Koptez, E Scott ES; Busaidy, Naifa L NL; Perrier, Nancy D ND; Lichtarge, Olivier O
Publication Date: 2019-03-01

Variant appearance in text: ATM: L1327X
PubMed Link: 30788456
Variant Present in the following documents:
  • Main text
  • js.2018-00043.pdf
View BVdb publication page



SETD2 mutations in primary central nervous system tumors.

Acta Neuropathologica Communications
Viaene, Angela N AN; Santi, Mariarita M; Rosenbaum, Jason J; Li, Marilyn M MM; Surrey, Lea F LF; Nasrallah, MacLean P MP
Publication Date: 2018-11-12

Variant appearance in text: ATM: L1327*
PubMed Link: 30419952
Variant Present in the following documents:
  • Main text
  • 40478_2018_Article_623.pdf
View BVdb publication page