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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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