RB1 c.148G>T ;(p.E50*)

Variant ID: 13-48881426-G-T

NM_000321.2(RB1):c.148G>T;(p.E50*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Phase I Dose-Escalation Study of Anti-CTLA-4 Antibody Ipilimumab and Lenalidomide in Patients with Advanced Cancers.

Molecular Cancer Therapeutics
Sakamuri, Divya D; Glitza, Isabella C IC; Betancourt Cuellar, Sonia L SL; Subbiah, Vivek V; Fu, Siqing S; Tsimberidou, Apostolia M AM; Wheler, Jennifer J JJ; Hong, David S DS; Naing, Aung A; Falchook, Gerald S GS; Fanale, Michelle A MA; Cabanillas, Maria E ME; Janku, Filip F
Publication Date: 2018-03

Variant appearance in text: RB1: E50*
PubMed Link: 29237802
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis.

Molecular Vision
Kalsoom, Saeeda S; Wasim, Muhammad M; Afzal, Sibtain S; Shahzad, Muhammad Saqib MS; Ramzan, Shaiqa S; Awan, Ali Raza AR; Anjum, Aftab Ahmed AA; Ramzan, Khushnooda K
Publication Date: 2015

Variant appearance in text: RB1: 148G>T; Glu50*
PubMed Link: 26396485
Variant Present in the following documents:
  • Main text
  • mv-v21-1085.pdf
View BVdb publication page