RYR1 c.1172G>C ;(p.R391P)

Variant ID: 19-38942453-G-C

NM_000540.2(RYR1):c.1172G>C;(p.R391P)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Acta Neuropathologica Communications
Savarese, Marco M; Di Fruscio, Giuseppina G; Mutarelli, Margherita M; Torella, Annalaura A; Magri, Francesca F; Santorelli, Filippo Maria FM; Comi, Giacomo Pietro GP; Bruno, Claudio C; Nigro, Vincenzo V
Publication Date: 2014-09-11

Variant appearance in text: RYR1: R391P
PubMed Link: 25214167
Variant Present in the following documents:
  • Main text
  • 40478_2014_Article_9100.pdf
View BVdb publication page