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RB1 c.516dup ;(p.Y173Ifs*12)
Variant ID: 13-48921975-T-TA
NM_000321.2(
RB1
):c.516dup;(p.Y173Ifs*12)
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:
Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma.
Molecular And Clinical Oncology
Hoang, Chinh Quoc CQ; Duong, Hong-Quan HQ; Nguyen, Nguyen Thanh NT; Nguyen, Sy Anh Hao SAH; Nguyen, Cuong C; Nguyen, Bo Duy BD; Phung, Lan Tuyet LT; Nguyen, Dung Thuy DT; Pham, Chau Thi Minh CTM; Le Doan, Trang T; Tran, Mai Hoang MH
Publication Date: 2021-09
Variant appearance in text: RB1: 515_516insA; Tyr173Ilefs*12
PubMed Link:
34277001
Variant Present in the following documents:
Main text
View BVdb publication page
Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.
Plos Genetics
Jiang, Liyan L; Huang, Jiaqi J; Higgs, Brandon W BW; Hu, Zhibin Z; Xiao, Zhan Z; Yao, Xin X; Conley, Sarah S; Zhong, Haihong H; Liu, Zheng Z; Brohawn, Philip P; Shen, Dong D; Wu, Song S; Ge, Xiaoxiao X; Jiang, Yue Y; Zhao, Yizhuo Y; Lou, Yuqing Y; Morehouse, Chris C; Zhu, Wei W; Sebastian, Yinong Y; Czapiga, Meggan M; Oganesyan, Vaheh V; Fu, Haihua H; Niu, Yanjie Y; Zhang, Wei W; Streicher, Katie K; Tice, David D; Zhao, Heng H; Zhu, Meng M; Xu, Lin L; Herbst, Ronald R; Su, Xinying X; Gu, Yi Y; Li, Shyoung S; Huang, Lihua L; Gu, Jianren J; Han, Baohui B; Jallal, Bahija B; Shen, Hongbing H; Yao, Yihong Y
Publication Date: 2016-04
Variant appearance in text: RB1: 516_517insA
PubMed Link:
27093186
Variant Present in the following documents:
pgen.1005895.s019.xlsx, sheet 1
View BVdb publication page