RB1 c.55del ;(p.E19Nfs*46)

Variant ID: 13-48878101-CG-C

NM_000321.2(RB1):c.55del;(p.E19Nfs*46)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 55del
PubMed Link: 31568710
Variant Present in the following documents:
  • Main text
  • MGG3-7-e913-s001.pdf
  • MGG3-7-e913.pdf
View BVdb publication page