ATM c.5763_5764insG ;(p.P1922Afs*8)

Variant ID: 11-108180887-A-AG

NM_000051.3(ATM):c.5763_5764insG;(p.P1922Afs*8)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 36072793
Variant Present in the following documents:
View BVdb publication page



Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

Nature Communications
von Loga, Katharina K; Woolston, Andrew A; Punta, Marco M; Barber, Louise J LJ; Griffiths, Beatrice B; Semiannikova, Maria M; Spain, Georgia G; Challoner, Benjamin B; Fenwick, Kerry K; Simon, Ronald R; Marx, Andreas A; Sauter, Guido G; Lise, Stefano S; Matthews, Nik N; Gerlinger, Marco M
Publication Date: 2020-01-16

Variant appearance in text: ATM: P1922fs
PubMed Link: 31949146
Variant Present in the following documents:
  • 41467_2019_13915_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

Annals Of Neurology
Schon, Katherine K; van Os, Nienke J H NJH; Oscroft, Nicholas N; Baxendale, Helen H; Scoffings, Daniel D; Ray, Julian J; Suri, Mohnish M; Whitehouse, William P WP; Mehta, Puja R PR; Everett, Natasha N; Bottolo, Leonardo L; van de Warrenburg, Bart P BP; Byrd, Philip J PJ; Weemaes, Corry C; Willemsen, Michel A MA; Tischkowitz, Marc M; Taylor, A Malcolm AM; Hensiek, Anke E AE
Publication Date: 2019-02

Variant appearance in text: N/A
PubMed Link: 30549301
Variant Present in the following documents:
View BVdb publication page



Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

British Journal Of Cancer
Reiman, A A; Srinivasan, V V; Barone, G G; Last, J I JI; Wootton, L L LL; Davies, E G EG; Verhagen, M M MM; Willemsen, M A MA; Weemaes, C M CM; Byrd, P J PJ; Izatt, L L; Easton, D F DF; Thompson, D J DJ; Taylor, A M AM
Publication Date: 2011-08-09

Variant appearance in text: N/A
PubMed Link: 21792198
Variant Present in the following documents:
View BVdb publication page