ATM c.2159_2160delinsAA ;(p.R720Q)

Variant ID: 11-108126976-GT-AA

NM_000051.3(ATM):c.2159_2160delinsAA;(p.R720Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clonal evolution in chronic lymphocytic leukemia is scant in relapsed but accelerated in refractory cases after chemo(immune) therapy.

Haematologica
Zapatka, Marc M; Tausch, Eugen E; Öztürk, Selcen S; Yosifov, Deyan Yordanov DY; Seiffert, Martina M; Zenz, Thorsten T; Schneider, Christof C; Blöhdorn, Johannes J; Döhner, Hartmut H; Mertens, Daniel D; Lichter, Peter P; Stilgenbauer, Stephan S
Publication Date: 2022-03-01

Variant appearance in text: ATM: R720Q
PubMed Link: 33691380
Variant Present in the following documents:
  • 2020_265777_ZAPATKA_TABS4.xlsx, sheet 1
View BVdb publication page



Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication.

Genes & Development
Hossain, Manzar M; Stillman, Bruce B
Publication Date: 2012-08-15

Variant appearance in text: ATM: R720Q
PubMed Link: 22855792
Variant Present in the following documents:
  • Main text
View BVdb publication page