RB1 c.1589_1590del ;(p.K530Sfs*24)

Variant ID: 13-48955471-CAA-C

NM_000321.2(RB1):c.1589_1590del;(p.K530Sfs*24)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine
Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW
Publication Date: 2023-03-16

Variant appearance in text: RB1: 1588_1589del; K530fs
PubMed Link: 36928815
Variant Present in the following documents:
  • 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Therapeutic and immunomodulatory potential of pazopanib in malignant phyllodes tumor.

Npj Breast Cancer
Ng, Dave Yong Xiang DYX; Li, Zhimei Z; Lee, Elizabeth E; Kok, Jessica Sook Ting JST; Lee, Jing Yi JY; Koh, Joanna J; Ng, Cedric Chuan-Young CC; Lim, Abner Herbert AH; Liu, Wei W; Ng, Sheng Rong SR; Lim, Kah Suan KS; Huang, Xi Xiao XX; Hong, Jing Han JH; Guan, Peiyong P; Sim, Yirong Y; Thike, Aye Aye AA; Nasir, Nur Diyana Md NDM; Li, Shang S; Tan, Puay Hoon PH; Teh, Bin Tean BT; Chan, Jason Yongsheng JY
Publication Date: 2022-04-01

Variant appearance in text: RB1: 1588_1589delAA
PubMed Link: 35365682
Variant Present in the following documents:
  • Main text
  • 41523_2022_Article_413.pdf
View BVdb publication page