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RB1 c.2287A>T ;(p.R763*)
Variant ID: 13-49039209-A-T
NM_000321.2(
RB1
):c.2287A>T;(p.R763*)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Clinical and genomic features of Chinese lung cancer patients with germline mutations.
Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10
Variant appearance in text: RB1: 2287A>T; R763*
PubMed Link:
35273153
Variant Present in the following documents:
41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page
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: 2287A>T; R763*
PubMed Link:
33397889
Variant Present in the following documents:
41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page
Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.
Bmc Cancer
Grotta, Simona S; D'Elia, Gemma G; Scavelli, Rossana R; Genovese, Silvia S; Surace, Cecilia C; Sirleto, Pietro P; Cozza, Raffaele R; Romanzo, Antonino A; De Ioris, Maria Antonietta MA; Valente, Paola P; Tomaiuolo, Anna Cristina AC; Lepri, Francesca Romana FR; Franchin, Tiziana T; Ciocca, Laura L; Russo, Serena S; Locatelli, Franco F; Angioni, Adriano A
Publication Date: 2015-11-04
Variant appearance in text: RB1: 2287A>T; Arg763X
PubMed Link:
26530098
Variant Present in the following documents:
Main text
12885_2015_Article_1854.pdf
View BVdb publication page