RB1 c.1359T>A ;(p.Y453*)

Variant ID: 13-48953756-T-A

NM_000321.2(RB1):c.1359T>A;(p.Y453*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: RB1: 1359T>A; Y453*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report.

Frontiers In Oncology
Gelli, Elisa E; Fallerini, Chiara C; Valentino, Floriana F; Giliberti, Annarita A; Castiglione, Francesca F; Laschi, Lucrezia L; Palmieri, Maria M; Fabbiani, Alessandra A; Tita, Rossella R; Mencarelli, Maria Antonietta MA; Renieri, Alessandra A; Ariani, Francesca F
Publication Date: 2020

Variant appearance in text: RB1: 1359T>A
PubMed Link: 32974172
Variant Present in the following documents:
  • Main text
  • fonc-10-01467.pdf
View BVdb publication page