EGR1 c.133del ;(p.A45Lfs*56)

Variant ID: 5-137801579-CG-C

NM_001964.2(EGR1):c.133del;(p.A45Lfs*56)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age.

Nature Communications
Burkhardt, Birgit B; Michgehl, Ulf U; Rohde, Jonas J; Erdmann, Tabea T; Berning, Philipp P; Reutter, Katrin K; Rohde, Marius M; Borkhardt, Arndt A; Burmeister, Thomas T; Dave, Sandeep S; Tzankov, Alexandar A; Dugas, Martin M; Sandmann, Sarah S; Fend, Falko F; Finger, Jasmin J; Mueller, Stephanie S; Gökbuget, Nicola N; Haferlach, Torsten T; Kern, Wolfgang W; Hartmann, Wolfgang W; Klapper, Wolfram W; Oschlies, Ilske I; Richter, Julia J; Kontny, Udo U; Lutz, Mathias M; Maecker-Kolhoff, Britta B; Ott, German G; Rosenwald, Andreas A; Siebert, Reiner R; von Stackelberg, Arend A; Strahm, Brigitte B; Woessmann, Wilhelm W; Zimmermann, Martin M; Zapukhlyak, Myroslav M; Grau, Michael M; Lenz, Georg G
Publication Date: 2022-07-06

Variant appearance in text: 225: 133delG
PubMed Link: 35794096
Variant Present in the following documents:
  • 41467_2022_31355_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).

Bmc Medical Genomics
Semyachkina, Alla Nikolaevna AN; Voskoboeva, Elena Yurievna EY; Nikolaeva, Ekaterina Alexandrovna EA; Zakharova, Ekaterina Yurievna EY
Publication Date: 2021-03-06

Variant appearance in text: 225: 133delG
PubMed Link: 33676511
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic characterisation of Eμ-Myc mouse lymphomas identifies Bcor as a Myc co-operative tumour-suppressor gene.

Nature Communications
Lefebure, Marcus M; Tothill, Richard W RW; Kruse, Elizabeth E; Hawkins, Edwin D ED; Shortt, Jake J; Matthews, Geoffrey M GM; Gregory, Gareth P GP; Martin, Benjamin P BP; Kelly, Madison J MJ; Todorovski, Izabela I; Doyle, Maria A MA; Lupat, Richard R; Li, Jason J; Schroeder, Jan J; Wall, Meaghan M; Craig, Stuart S; Poortinga, Gretchen G; Cameron, Don D; Bywater, Megan M; Kats, Lev L; Gearhart, Micah D MD; Bardwell, Vivian J VJ; Dickins, Ross A RA; Hannan, Ross D RD; Papenfuss, Anthony T AT; Johnstone, Ricky W RW
Publication Date: 2017-03-06

Variant appearance in text: 225: 131delG
PubMed Link: 28262675
Variant Present in the following documents:
  • ncomms14581-s5.xlsx, sheet 1
View BVdb publication page