RB1 c.1338C>A ;(p.Y446*)

Variant ID: 13-48953735-C-A

NM_000321.2(RB1):c.1338C>A;(p.Y446*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Multiregional Sequencing of IDH-WT Glioblastoma Reveals High Genetic Heterogeneity and a Dynamic Evolutionary History.

Cancers
Franceschi, Sara S; Civita, Prospero P; Pasqualetti, Francesco F; Lessi, Francesca F; Modena, Martina M; Barachini, Serena S; Morelli, Mariangela M; Santonocito, Orazio O; Vannozzi, Riccardo R; Pilkington, Geoffrey J GJ; Ortenzi, Valerio V; Naccarato, Antonio Giuseppe AG; Aretini, Paolo P; Mazzanti, Chiara Maria CM
Publication Date: 2021-04-23

Variant appearance in text: RB1: Tyr446Ter
PubMed Link: 33922652
Variant Present in the following documents:
  • Main text
View BVdb publication page



VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research
Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR
Publication Date: 2016-06-20

Variant appearance in text: RB1: 1338C>A; Y446*
PubMed Link: 27060149
Variant Present in the following documents:
  • supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2
View BVdb publication page