RB1 c.1389dup ;(p.E464Rfs*11)

Variant ID: 13-48953785-C-CA

NM_000321.2(RB1):c.1389dup;(p.E464Rfs*11)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole-Genome Sequencing of Retinoblastoma Reveals the Diversity of Rearrangements Disrupting RB1 and Uncovers a Treatment-Related Mutational Signature.

Cancers
Davies, Helen R HR; Broad, Kevin D KD; Onadim, Zerrin Z; Price, Elizabeth A EA; Zou, Xueqing X; Sheriff, Ibrahim I; Karaa, Esin Kotiloğlu EK; Scheimberg, Irene I; Reddy, M Ashwin MA; Sagoo, Mandeep S MS; Ohnuma, Shin-Ichi SI; Nik-Zainal, Serena S
Publication Date: 2021-02-11

Variant appearance in text: RB1: 1389dupA
PubMed Link: 33670346
Variant Present in the following documents:
  • Main text
  • cancers-13-00754.pdf
View BVdb publication page