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RB1 c.1649T>A ;(p.L550*)
Variant ID: 13-48955533-T-A
NM_000321.2(
RB1
):c.1649T>A;(p.L550*)
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:
Profiling of Circulating Free DNA Using Targeted and Genome-wide Sequencing in Patients with SCLC.
Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer
Mohan, Sumitra S; Foy, Victoria V; Ayub, Mahmood M; Leong, Hui Sun HS; Schofield, Pieta P; Sahoo, Sudhakar S; Descamps, Tine T; Kilerci, Bedirhan B; Smith, Nigel K NK; Carter, Mathew M; Priest, Lynsey L; Zhou, Cong C; Carr, T Hedley TH; Miller, Crispin C; Faivre-Finn, Corinne C; Blackhall, Fiona F; Rothwell, Dominic G DG; Dive, Caroline C; Brady, Gerard G
Publication Date: 2020-02
Variant appearance in text: RB1: 1649T>A; L550*
PubMed Link:
31629061
Variant Present in the following documents:
mmc2.xlsx, sheet 3
View BVdb publication page
Genomic analysis of oesophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations.
Nature Communications
Chang, Jiang J; Tan, Wenle W; Ling, Zhiqiang Z; Xi, Ruibin R; Shao, Mingming M; Chen, Mengjie M; Luo, Yingying Y; Zhao, Yanjie Y; Liu, Yun Y; Huang, Xiancong X; Xia, Yuchao Y; Hu, Jinlin J; Parker, Joel S JS; Marron, David D; Cui, Qionghua Q; Peng, Linna L; Chu, Jiahui J; Li, Hongmin H; Du, Zhongli Z; Han, Yaling Y; Tan, Wen W; Liu, Zhihua Z; Zhan, Qimin Q; Li, Yun Y; Mao, Weimin W; Wu, Chen C; Lin, Dongxin D
Publication Date: 2017-05-26
Variant appearance in text: RB1: Leu550*
PubMed Link:
28548104
Variant Present in the following documents:
ncomms15290-s4.xlsx, sheet 1
View BVdb publication page