RYR1 c.6934del ;(p.M2312Cfs*118)

Variant ID: 19-38989790-CA-C

NM_000540.2(RYR1):c.6934del;(p.M2312Cfs*118)

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:

In vivo RyR1 reduction in muscle triggers a core-like myopathy.

Acta Neuropathologica Communications
Pelletier, Laurent L; Petiot, Anne A; Brocard, Julie J; Giannesini, Benoit B; Giovannini, Diane D; Sanchez, Colline C; Travard, Lauriane L; Chivet, Mathilde M; Beaufils, Mathilde M; Kutchukian, Candice C; Bendahan, David D; Metzger, Daniel D; Franzini Armstrong, Clara C; Romero, Norma B NB; Rendu, John J; Jacquemond, Vincent V; Fauré, Julien J; Marty, Isabelle I
Publication Date: 2020-11-11

Variant appearance in text: RYR1: Met2312Cysfs*118
PubMed Link: 33176865
Variant Present in the following documents:
  • Main text
  • 40478_2020_Article_1068.pdf
View BVdb publication page