RYR1 c.7099G>T ;(p.A2367S)

Variant ID: 19-38990346-G-T

NM_000540.2(RYR1):c.7099G>T;(p.A2367S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations.

Frontiers In Pharmacology
Parada-Márquez, Juan Fernando JF; Maldonado-Rodriguez, Nicolás David ND; Triana-Fonseca, Paula P; Contreras-Bravo, Nora Constanza NC; Calderón-Ospina, Carlos Alberto CA; Restrepo, Carlos M CM; Morel, Adrien A; Ortega-Recalde, Oscar Javier OJ; Silgado-Guzmán, Daniel Felipe DF; Angulo-Aguado, Mariana M; Fonseca-Mendoza, Dora Janeth DJ
Publication Date: 2023

Variant appearance in text: rs146306934
PubMed Link: 37021041
Variant Present in the following documents:
  • Table2.xlsx, sheet 1
View BVdb publication page