RYR1 c.14505G>C ;(p.G4835=)

Variant ID: 19-39070762-G-C

NM_000540.2(RYR1):c.14505G>C;(p.G4835=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrative analysis of genomic and transcriptomic data of normal, tumour, and co-occurring leukoplakia tissue triads drawn from patients with gingivobuccal oral cancer identifies signatures of tumour initiation and progression.

The Journal Of Pathology
Ghosh, Arnab A; Das, Chitrarpita C; Ghose, Sandip S; Maitra, Arindam A; Roy, Bidyut B; Majumder, Partha P PP; Biswas, Nidhan K NK
Publication Date: 2022-08

Variant appearance in text: RYR1: 14505G>C
PubMed Link: 35358331
Variant Present in the following documents:
  • PATH-257-593-s018.xlsx, sheet 2
View BVdb publication page



Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.

Pharmacogenomics
Sadhasivam, Senthilkumar S; Brandom, Barbara W BW; Henker, Richard A RA; McAuliffe, John J JJ
Publication Date: 2019-09

Variant appearance in text: RYR1: Gly4835Gly
PubMed Link: 31559918
Variant Present in the following documents:
  • Main text
View BVdb publication page



RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms.

Pharmacogenomics
Isackson, Paul J PJ; Wang, Jianxin J; Zia, Mohammad M; Spurgeon, Paul P; Levesque, Adrian A; Bard, Jonathan J; James, Smitha S; Nowak, Norma N; Lee, Tae Keun TK; Vladutiu, Georgirene D GD
Publication Date: 2018-11

Variant appearance in text: RYR1: G4835G
PubMed Link: 30325262
Variant Present in the following documents:
  • Main text
View BVdb publication page