RB1 c.264+5G>A

Variant ID: 13-48881547-G-A

NM_000321.2(RB1):c.264+5G>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Dynamic BH3 profiling identifies active BH3 mimetic combinations in non-small cell lung cancer.

Cell Death & Disease
Potter, Danielle S DS; Du, Ruochen R; Bhola, Patrick P; Bueno, Raphael R; Letai, Anthony A
Publication Date: 2021-07-27

Variant appearance in text: RB1: 264+5G>A
PubMed Link: 34315868
Variant Present in the following documents:
  • 41419_2021_4029_MOESM17_ESM.xlsx, sheet 1
View BVdb publication page



Osteosarcoma without prior retinoblastoma related to RB1 low-penetrance germline pathogenic variants: A novel type of RB1-related hereditary predisposition syndrome?

Molecular Genetics & Genomic Medicine
Imbert-Bouteille, Marion M; Gauthier-Villars, Marion M; Leroux, Dominique D; Meunier, Isabelle I; Aerts, Isabelle I; Lumbroso-Le Rouic, Livia L; Lejeune, Sophie S; Delnatte, Capucine C; Abadie, Caroline C; Pujol, Pascal P; Houdayer, Claude C; Corsini, Carole C
Publication Date: 2019-12

Variant appearance in text: RB1: 264+5G>A
PubMed Link: 31568710
Variant Present in the following documents:
  • Main text
  • MGG3-7-e913-s001.pdf
  • MGG3-7-e913.pdf
View BVdb publication page