RB1 c.52_80del ;(p.A18Pfs*3)

Variant ID: 13-48878093-TGCCGCCGCGGAACCCCCGGCACCGCCGCC-T

NM_000321.2(RB1):c.52_80del;(p.A18Pfs*3)

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:

Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma.

Bmc Cancer
Devarajan, Bharanidharan B; Prakash, Logambiga L; Kannan, Thirumalai Raj TR; Abraham, Aloysius A AA; Kim, Usha U; Muthukkaruppan, Veerappan V; Vanniarajan, Ayyasamy A
Publication Date: 2015-04-28

Variant appearance in text: RB1: 46_74del
PubMed Link: 25928201
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1340.pdf
View BVdb publication page