RYR1 c.2288T>A ;(p.V763E)

Variant ID: 19-38949906-T-A

NM_000540.2(RYR1):c.2288T>A;(p.V763E)

This variant was identified in 1 publication

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: 2288T>A; Val763Glu
PubMed Link: 35181665
Variant Present in the following documents:
  • 41525_2022_283_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page