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RB1 c.485_486delinsAA ;(p.F162*)
Variant ID: 13-48919320-TC-AA
NM_000321.2(
RB1
):c.485_486delinsAA;(p.F162*)
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:
Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing.
Molecular Vision
Zou, Yihua Y; Li, Jiakai J; Hua, Peiyan P; Liang, Tingyi T; Ji, Xunda X; Zhao, Peiquan P
Publication Date: 2021
Variant appearance in text: RB1: F162X
PubMed Link:
33456302
Variant Present in the following documents:
Main text
mv-v27-1.pdf
View BVdb publication page