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RB1 c.2125dup ;(p.Y709Lfs*12)
Variant ID: 13-49037884-G-GT
NM_000321.2(
RB1
):c.2125dup;(p.Y709Lfs*12)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Correlation between Family RB1 Gene Pathogenic Variant with Clinical Features and Prognosis of Retinoblastoma under 5 Years Old.
Disease Markers
Zhang, Yi Y; Wang, Yizhuo Y; Huang, Dongsheng D; Ma, Jianmin J; Zhang, Weiling W; Gu, Huali H; Zhou, Yan Y; Yi, You Y; Zhang, Pinwei P
Publication Date: 2021
Variant appearance in text: RB1: 2124_2125insT; Y709Lfs
PubMed Link:
34336010
Variant Present in the following documents:
Main text
DM2021-9981028.pdf
View BVdb publication page