RB1 c.10A>T ;(p.K4*)

Variant ID: 13-48878058-A-T

NM_000321.2(RB1):c.10A>T;(p.K4*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.

Plos Genetics
Eloy, Philippine P; Dehainault, Catherine C; Sefta, Meriem M; Aerts, Isabelle I; Doz, François F; Cassoux, Nathalie N; Lumbroso le Rouic, Livia L; Stoppa-Lyonnet, Dominique D; Radvanyi, François F; Millot, Gaël A GA; Gauthier-Villars, Marion M; Houdayer, Claude C
Publication Date: 2016-02

Variant appearance in text: RB1: 10A>T; Lys4*
PubMed Link: 26925970
Variant Present in the following documents:
  • Main text
  • pgen.1005888.pdf
View BVdb publication page