RYR1 c.7060G>A ;(p.V2354M)

Variant ID: 19-38990307-G-A

NM_000540.2(RYR1):c.7060G>A;(p.V2354M)

This variant was identified in 2 publications

View GRCh38 version.




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: Val2354Met
PubMed Link: 31559918
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.

Anesthesia And Analgesia
Brandom, Barbara W BW; Bina, Saiid S; Wong, Cynthia A CA; Wallace, Tarina T; Visoiu, Mihaela M; Isackson, Paul J PJ; Vladutiu, Georgirene D GD; Sambuughin, Nyamkhishig N; Muldoon, Sheila M SM
Publication Date: 2013-05

Variant appearance in text: RYR1: Val2354Met
PubMed Link: 23558838
Variant Present in the following documents:
  • Main text
View BVdb publication page