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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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