RB1 c.1117_1120del ;(p.T373Qfs*6)

Variant ID: 13-48942728-ACACT-A

NM_000321.2(RB1):c.1117_1120del;(p.T373Qfs*6)

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:

Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis.

Molecular Vision
Kalsoom, Saeeda S; Wasim, Muhammad M; Afzal, Sibtain S; Shahzad, Muhammad Saqib MS; Ramzan, Shaiqa S; Awan, Ali Raza AR; Anjum, Aftab Ahmed AA; Ramzan, Khushnooda K
Publication Date: 2015

Variant appearance in text: RB1: 1116_1119delCACT; Thr373Glnfs*6
PubMed Link: 26396485
Variant Present in the following documents:
  • Main text
  • mv-v21-1085.pdf
View BVdb publication page