RYR1 c.122T>C ;(p.F41S)

Variant ID: 19-38931461-T-C

NM_000540.2(RYR1):c.122T>C;(p.F41S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 122T>C; Phe41Ser; rs766407858
PubMed Link: 35181665
Variant Present in the following documents:
  • 41525_2022_283_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Galleni Leão, Leonardo L; Santos Souza, Lucas L; Nogueira, Letícia L; Pavanello, Rita de Cássia Mingroni RCM; Gurgel-Giannetti, Juliana J; Reed, Umbertina C UC; Oliveira, Acary S B ASB; Cuperman, Thais T; Cotta, Ana A; FPaim, Julia J; Zatz, Mayana M; Vainzof, Mariz M
Publication Date: 2020-12

Variant appearance in text: RYR1: 122T>C; Phe41Ser
PubMed Link: 33458582
Variant Present in the following documents:
  • Main text
  • am-2020-04-274.pdf
View BVdb publication page