RB1 c.2060_2061insTCATT ;(p.L688Hfs*10)

Variant ID: 13-49033923-C-CTCATT

NM_000321.2(RB1):c.2060_2061insTCATT;(p.L688Hfs*10)

This variant was identified in 1 publication

View GRCh38 version.




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: 2060_2061insTCATT; Leu688Hisfs*10
PubMed Link: 26396485
Variant Present in the following documents:
  • Main text
  • mv-v21-1085.pdf
View BVdb publication page