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RB1 c.1423A>T ;(p.K475*)
Variant ID: 13-48954302-A-T
NM_000321.2(
RB1
):c.1423A>T;(p.K475*)
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:
The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China.
Risk Management And Healthcare Policy
Xie, Ying Y; Xu, Xiao-Lin XL; Wei, Wen-Bin WB
Publication Date: 2021
Variant appearance in text: RB1: 1423A>T; K475X
PubMed Link:
34456592
Variant Present in the following documents:
Main text
rmhp-14-3453.pdf
View BVdb publication page
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: K475X
PubMed Link:
31629061
Variant Present in the following documents:
mmc2.xlsx, sheet 3
mmc2.xlsx, sheet 5
View BVdb publication page