Bibliome.ai browser hg19
Search
About
Stats
FAQ
RB1 c.1330_1332del ;(p.Q444del)
Variant ID: 13-48951168-ACAG-A
NM_000321.2(
RB1
):c.1330_1332del;(p.Q444del)
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:
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma.
European Journal Of Human Genetics : Ejhg
Imperatore, Valentina V; Pinto, Anna Maria AM; Gelli, Elisa E; Trevisson, Eva E; Morbidoni, Valeria V; Frullanti, Elisa E; Hadjistilianou, Theodora T; De Francesco, Sonia S; Toti, Paolo P; Gusson, Elena E; Roversi, Gaia G; Accogli, Andrea A; Capra, Valeria V; Mencarelli, Maria Antonietta MA; Renieri, Alessandra A; Ariani, Francesca F
Publication Date: 2018-07
Variant appearance in text: RB1: Gln444del
PubMed Link:
29662154
Variant Present in the following documents:
Main text
View BVdb publication page