RB1 c.2125dup ;(p.Y709Lfs*12)

Variant ID: 13-49037884-G-GT

NM_000321.2(RB1):c.2125dup;(p.Y709Lfs*12)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Correlation between Family RB1 Gene Pathogenic Variant with Clinical Features and Prognosis of Retinoblastoma under 5 Years Old.

Disease Markers
Zhang, Yi Y; Wang, Yizhuo Y; Huang, Dongsheng D; Ma, Jianmin J; Zhang, Weiling W; Gu, Huali H; Zhou, Yan Y; Yi, You Y; Zhang, Pinwei P
Publication Date: 2021

Variant appearance in text: RB1: 2124_2125insT; Y709Lfs
PubMed Link: 34336010
Variant Present in the following documents:
  • Main text
  • DM2021-9981028.pdf
View BVdb publication page