RB1 c.25dup ;(p.T9Nfs*22)

Variant ID: 13-48878068-G-GA

NM_000321.2(RB1):c.25dup;(p.T9Nfs*22)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China.

Risk Management And Healthcare Policy
Xie, Ying Y; Xu, Xiao-Lin XL; Wei, Wen-Bin WB
Publication Date: 2021

Variant appearance in text: RB1: 21dupA; T9Nfs*22
PubMed Link: 34456592
Variant Present in the following documents:
  • Main text
  • rmhp-14-3453.pdf
View BVdb publication page



Integrative genomic and transcriptomic analysis of leiomyosarcoma.

Nature Communications
Chudasama, Priya P; Mughal, Sadaf S SS; Sanders, Mathijs A MA; Hübschmann, Daniel D; Chung, Inn I; Deeg, Katharina I KI; Wong, Siao-Han SH; Rabe, Sophie S; Hlevnjak, Mario M; Zapatka, Marc M; Ernst, Aurélie A; Kleinheinz, Kortine K; Schlesner, Matthias M; Sieverling, Lina L; Klink, Barbara B; Schröck, Evelin E; Hoogenboezem, Remco M RM; Kasper, Bernd B; Heilig, Christoph E CE; Egerer, Gerlinde G; Wolf, Stephan S; von Kalle, Christof C; Eils, Roland R; Stenzinger, Albrecht A; Weichert, Wilko W; Glimm, Hanno H; Gröschel, Stefan S; Kopp, Hans-Georg HG; Omlor, Georg G; Lehner, Burkhard B; Bauer, Sebastian S; Schimmack, Simon S; Ulrich, Alexis A; Mechtersheimer, Gunhild G; Rippe, Karsten K; Brors, Benedikt B; Hutter, Barbara B; Renner, Marcus M; Hohenberger, Peter P; Scholl, Claudia C; Fröhling, Stefan S
Publication Date: 2018-01-10

Variant appearance in text: RB1: 21dupA
PubMed Link: 29321523
Variant Present in the following documents:
  • 41467_2017_2602_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page