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