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RB1 c.1644dup ;(p.H549Tfs*6)
Variant ID: 13-48955524-T-TA
NM_000321.2(
RB1
):c.1644dup;(p.H549Tfs*6)
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:
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.
European Journal Of Human Genetics : Ejhg
Amitrano, Sara S; Marozza, Annabella A; Somma, Serena S; Imperatore, Valentina V; Hadjistilianou, Theodora T; De Francesco, Sonia S; Toti, Paolo P; Galimberti, Daniela D; Meloni, Ilaria I; Cetta, Francesco F; Piu, Pietro P; Di Marco, Chiara C; Dosa, Laura L; Lo Rizzo, Caterina C; Carignani, Giulia G; Mencarelli, Maria Antonietta MA; Mari, Francesca F; Renieri, Alessandra A; Ariani, Francesca F
Publication Date: 2015-11
Variant appearance in text: RB1: 1644dup; His549Thrfs*6
PubMed Link:
25712084
Variant Present in the following documents:
Main text
View BVdb publication page