RB1 c.618dup ;(p.Q207Tfs*5)

Variant ID: 13-48934162-T-TA

NM_000321.2(RB1):c.618dup;(p.Q207Tfs*5)

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:

The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China.

Risk Management And Healthcare Policy
Xie, Ying Y; Xu, Xiao-Lin XL; Wei, Wen-Bin WB
Publication Date: 2021

Variant appearance in text: RB1: 618dupA; Q207Tfs*5
PubMed Link: 34456592
Variant Present in the following documents:
  • Main text
  • rmhp-14-3453.pdf
View BVdb publication page