ATM c.5572T>A ;(p.W1858R)

Variant ID: 11-108175477-T-A

NM_000051.3(ATM):c.5572T>A;(p.W1858R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.

Haematologica
Gutierrez-Rodrigues, Fernanda F; Beerman, Isabel I; Groarke, Emma M EM; Patel, Bhavisha A BA; Spitofsky, Nina N; Dillon, Laura W LW; Raffo, Diego Quinones DQ; Hourigan, Christopher S CS; Kajigaya, Sachiko S; Ferrucci, Luigi L; Young, Neal S NS
Publication Date: 2022-08-01

Variant appearance in text: ATM: 5572T>A; Trp1858Arg
PubMed Link: 34587721
Variant Present in the following documents:
  • 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.pdf
View BVdb publication page



Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Cold Spring Harbor Molecular Case Studies
Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE
Publication Date: 2018-04

Variant appearance in text: ATM: W1858R
PubMed Link: 29449315
Variant Present in the following documents:
  • Main text
  • MCS002352Sua.pdf
View BVdb publication page