RYR1 c.12879G>A ;(p.A4293=)

Variant ID: 19-39055853-G-A

NM_000540.2(RYR1):c.12879G>A;(p.A4293=)

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: Ala4293Ala
PubMed Link: 31559918
Variant Present in the following documents:
  • Main text
View BVdb publication page