RB1 c.220_221del ;(p.A74Lfs*35)

Variant ID: 13-48881498-AGC-A

NM_000321.2(RB1):c.220_221del;(p.A74Lfs*35)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Case report: A colorectal cancer patient with microsatellite instability-high and MSH2 germline mutation failed to respond to anti-PD-1 immunotherapy.

Frontiers In Immunology
Zhang, Qun Q; Hu, Jing J; Zhang, Yaping Y; Li, Li L; Wang, Ting T; Qian, Xiaoping X
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35990637
Variant Present in the following documents:
View BVdb publication page



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: 220_221delGC
PubMed Link: 26530098
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1854.pdf
View BVdb publication page