RB1 c.653del ;(p.L218*)

Variant ID: 13-48934196-GT-G

NM_000321.2(RB1):c.653del;(p.L218*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.

Bmc Cancer
Grotta, Simona S; D'Elia, Gemma G; Scavelli, Rossana R; Genovese, Silvia S; Surace, Cecilia C; Sirleto, Pietro P; Cozza, Raffaele R; Romanzo, Antonino A; De Ioris, Maria Antonietta MA; Valente, Paola P; Tomaiuolo, Anna Cristina AC; Lepri, Francesca Romana FR; Franchin, Tiziana T; Ciocca, Laura L; Russo, Serena S; Locatelli, Franco F; Angioni, Adriano A
Publication Date: 2015-11-04

Variant appearance in text: RB1: 652delT; Leu218X
PubMed Link: 26530098
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1854.pdf
View BVdb publication page