RB1 c.124C>T ;(p.L42=)

Variant ID: 13-48878172-C-T

NM_000321.2(RB1):c.124C>T;(p.L42=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: RB1: 124C>T; L42L
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s004.xlsx, sheet 2
View BVdb publication page



Genomic profiling of newly diagnosed glioblastoma patients and its potential for clinical utility - a prospective, translational study.

Molecular Oncology
Nørøxe, Dorte S DS; Yde, Christina W CW; Østrup, Olga O; Michaelsen, Signe R SR; Schmidt, Ane Y AY; Kinalis, Savvas S; Torp, Mathias H MH; Skjøth-Rasmussen, Jane J; Brennum, Jannick J; Hamerlik, Petra P; Poulsen, Hans S HS; Nielsen, Finn C FC; Lassen, Ulrik U
Publication Date: 2020-11

Variant appearance in text: RB1: 124C>T
PubMed Link: 32885540
Variant Present in the following documents:
  • Main text
  • MOL2-14-2727.pdf
View BVdb publication page