RYR1 c.11110C>T ;(p.H3704Y)

Variant ID: 19-39019666-C-T

NM_000540.2(RYR1):c.11110C>T;(p.H3704Y)

This variant was identified in 2 publications

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: rs1175190704
PubMed Link: 37021041
Variant Present in the following documents:
  • Table2.xlsx, sheet 1
View BVdb publication page



Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine
Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C
Publication Date: 2022-02-18

Variant appearance in text: RYR1: 11110C>T; His3704Tyr; rs1175190704
PubMed Link: 35181665
Variant Present in the following documents:
  • 41525_2022_283_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page