ATM c.1291G>T ;(p.E431*)

Variant ID: 11-108121483-G-T

NM_000051.3(ATM):c.1291G>T;(p.E431*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.

Leukemia
Nadeu, F F; Clot, G G; Delgado, J J; Martín-García, D D; Baumann, T T; Salaverria, I I; Beà, S S; Pinyol, M M; Jares, P P; Navarro, A A; Suárez-Cisneros, H H; Aymerich, M M; Rozman, M M; Villamor, N N; Colomer, D D; González, M M; Alcoceba, M M; Terol, M J MJ; Navarro, B B; Colado, E E; Payer, Á R ÁR; Puente, X S XS; López-Otín, C C; López-Guillermo, A A; Enjuanes, A A; Campo, E E
Publication Date: 2018-03

Variant appearance in text: ATM: E431*
PubMed Link: 28924241
Variant Present in the following documents:
  • leu2017291x4.xlsx, sheet 1
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Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Pentsova, Elena I EI; Shah, Ronak H RH; Tang, Jiabin J; Boire, Adrienne A; You, Daoqi D; Briggs, Samuel S; Omuro, Antonio A; Lin, Xuling X; Fleisher, Martin M; Grommes, Christian C; Panageas, Katherine S KS; Meng, Fanli F; Selcuklu, S Duygu SD; Ogilvie, Shahiba S; Distefano, Natalie N; Shagabayeva, Larisa L; Rosenblum, Marc M; DeAngelis, Lisa M LM; Viale, Agnes A; Mellinghoff, Ingo K IK; Berger, Michael F MF
Publication Date: 2016-07-10

Variant appearance in text: ATM: 1291G>T; E431*
PubMed Link: 27161972
Variant Present in the following documents:
  • supp_JCO.2016.66.6487_DS_2016.666487.xlsx, sheet 1
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Longitudinal analysis of 25 sequential sample-pairs using a custom multiple myeloma mutation sequencing panel (M(3)P).

Annals Of Hematology
Kortüm, K M KM; Langer, C C; Monge, J J; Bruins, L L; Zhu, Y X YX; Shi, C X CX; Jedlowski, P P; Egan, J B JB; Ojha, J J; Bullinger, L L; Kull, M M; Ahmann, G G; Rasche, L L; Knop, S S; Fonseca, R R; Einsele, H H; Stewart, A K AK; Braggio, Esteban E
Publication Date: 2015-07

Variant appearance in text: ATM: Glu431*
PubMed Link: 25743686
Variant Present in the following documents:
  • Main text
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