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RB1 c.1884A>T ;(p.A628=)
Variant ID: 13-49030409-A-T
NM_000321.2(
RB1
):c.1884A>T;(p.A628=)
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:
Mutation spectrum of RB1 gene in unilateral retinoblastoma cases from Tunisia and correlations with clinical features.
Plos One
Ayari-Jeridi, Hajer H; Moran, Kimberly K; Chebbi, Amel A; Bouguila, Hédi H; Abbes, Imen I; Charradi, Khaoula K; Benammar-Elgaaïed, Amel A; Ganguly, Arupa A
Publication Date: 2015
Variant appearance in text: RB1: Ala628Ala
PubMed Link:
25602518
Variant Present in the following documents:
Main text
pone.0116615.pdf
View BVdb publication page