Bibliome.ai browser hg19
Search
About
Stats
FAQ
RB1 c.838_840del ;(p.E280del)
Variant ID: 13-48937067-AAAG-A
NM_000321.2(
RB1
):c.838_840del;(p.E280del)
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:
Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.
Bmc Cancer
Grotta, Simona S; D'Elia, Gemma G; Scavelli, Rossana R; Genovese, Silvia S; Surace, Cecilia C; Sirleto, Pietro P; Cozza, Raffaele R; Romanzo, Antonino A; De Ioris, Maria Antonietta MA; Valente, Paola P; Tomaiuolo, Anna Cristina AC; Lepri, Francesca Romana FR; Franchin, Tiziana T; Ciocca, Laura L; Russo, Serena S; Locatelli, Franco F; Angioni, Adriano A
Publication Date: 2015-11-04
Variant appearance in text: RB1: Glu280del
PubMed Link:
26530098
Variant Present in the following documents:
Main text
12885_2015_Article_1854.pdf
View BVdb publication page