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RB1 c.473T>A ;(p.L158*)
Variant ID: 13-48919308-T-A
NM_000321.2(
RB1
):c.473T>A;(p.L158*)
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:
Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.
Npj Breast Cancer
Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F
Publication Date: 2020
Variant appearance in text: RB1: 473T>A; L158Q
PubMed Link:
33145402
Variant Present in the following documents:
41523_2020_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Genetic screening in Iranian patients with retinoblastoma.
Eye (London, England)
Shahraki, K K; Ahani, A A; Sharma, P P; Faranoush, M M; Bahoush, G G; Torktaz, I I; Gahl, W A WA; Naseripour, M M; Behnam, B B
Publication Date: 2017-04
Variant appearance in text: RB1: 473T>A; L158X
PubMed Link:
27983729
Variant Present in the following documents:
Main text
View BVdb publication page