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RB1 c.1064_1065del ;(p.R355Nfs*6)
Variant ID: 13-48942673-CAG-C
NM_000321.2(
RB1
):c.1064_1065del;(p.R355Nfs*6)
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 Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.
Frontiers In Oncology
Andrikopoulou, Angeliki A; Chatzinikolaou, Spyridoula S; Kyriopoulos, Ilias I; Bletsa, Garyfalia G; Kaparelou, Maria M; Liontos, Michalis M; Dimopoulos, Meletios-Athanasios MA; Zagouri, Flora F
Publication Date: 2021
Variant appearance in text: RB1: 1064_1065del; Arg355fs
PubMed Link:
35127508
Variant Present in the following documents:
Main text
fonc-11-797505.pdf
View BVdb publication page
Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan.
Bmc Medical Genetics
Zhang, Zhen Z; Xiao, Yi-Shuang YS; Shen, Ru R; Jiang, Hong-Chao HC; Tan, Li L; Li, Ren-Qiu RQ; Yang, Xiao-Hong XH; Gu, Huai-Yu HY; He, Wen-Ji WJ; Ma, Jing J
Publication Date: 2020-11-23
Variant appearance in text: RB1: 1061_1062del; R355Nfs*6
PubMed Link:
33225895
Variant Present in the following documents:
Main text
12881_2020_Article_1150.pdf
View BVdb publication page