RYR1 c.4924G>A ;(p.E1642K)

Variant ID: 19-38974146-G-A

NM_000540.2(RYR1):c.4924G>A;(p.E1642K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrative Exome and Transcriptome Analysis of Conjunctival Melanoma and Its Potential Application for Personalized Therapy.

Jama Ophthalmology
Demirci, Hakan H; Demirci, F Yesim FY; Ciftci, Suleyman S; Elner, Victor M VM; Wu, Yi-Mi YM; Ning, Yu Y; Chinnaiyan, Arul A; Robinson, Dan R DR
Publication Date: 2019-12-01

Variant appearance in text: RYR1: E1642K
PubMed Link: 31647501
Variant Present in the following documents:
  • Main text
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: Glu1642Lys
PubMed Link: 31559918
Variant Present in the following documents:
  • Main text
View BVdb publication page