RYR1 c.4478T>G ;(p.M1493R)

Variant ID: 19-38969098-T-G

NM_000540.2(RYR1):c.4478T>G;(p.M1493R)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

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: Met1493Arg
PubMed Link: 31559918
Variant Present in the following documents:
  • Main text
View BVdb publication page