RB1 c.200del ;(p.P67Qfs*10)

Variant ID: 13-48881476-AC-A

NM_000321.2(RB1):c.200del;(p.P67Qfs*10)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing.

Molecular Vision
Zou, Yihua Y; Li, Jiakai J; Hua, Peiyan P; Liang, Tingyi T; Ji, Xunda X; Zhao, Peiquan P
Publication Date: 2021

Variant appearance in text: RB1: 199delC
PubMed Link: 33456302
Variant Present in the following documents:
  • Main text
  • mv-v27-1.pdf
View BVdb publication page



RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling.

Plos One
Parma, Diana D; Ferrer, Marcela M; Luce, Leonela L; Giliberto, Florencia F; Szijan, Irene I
Publication Date: 2017

Variant appearance in text: RB1: P67fs44
PubMed Link: 29261756
Variant Present in the following documents:
  • Main text
  • pone.0189736.pdf
View BVdb publication page