RYR1 c.2989C>T ;(p.R997*)

Variant ID: 19-38956849-C-T

NM_000540.2(RYR1):c.2989C>T;(p.R997*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Immunogenomics of Colorectal Cancer Response to Checkpoint Blockade: Analysis of the KEYNOTE 177 Trial and Validation Cohorts.

Gastroenterology
Bortolomeazzi, Michele M; Keddar, Mohamed Reda MR; Montorsi, Lucia L; Acha-Sagredo, Amelia A; Benedetti, Lorena L; Temelkovski, Damjan D; Choi, Subin S; Petrov, Nedyalko N; Todd, Katrina K; Wai, Patty P; Kohl, Johannes J; Denner, Tamara T; Nye, Emma E; Goldstone, Robert R; Ward, Sophia S; Wilson, Gareth A GA; Al Bakir, Maise M; Swanton, Charles C; John, Susan S; Miles, James J; Larijani, Banafshe B; Kunene, Victoria V; Fontana, Elisa E; Arkenau, Hendrik-Tobias HT; Parker, Peter J PJ; Rodriguez-Justo, Manuel M; Shiu, Kai-Keen KK; Spencer, Jo J; Ciccarelli, Francesca D FD
Publication Date: 2021-10

Variant appearance in text: RYR1: R997X
PubMed Link: 34197832
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark.

Neurology. Genetics
Witting, Nanna N; Werlauff, Ulla U; Duno, Morten M; Vissing, John J
Publication Date: 2017-04

Variant appearance in text: RYR1: Arg997*
PubMed Link: 28357410
Variant Present in the following documents:
  • NG2016003640.pdf
View BVdb publication page