RYR1 c.12860C>T ;(p.A4287V)

Variant ID: 19-39055834-C-T

NM_000540.2(RYR1):c.12860C>T;(p.A4287V)

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:

Permeabilised skeletal muscle reveals mitochondrial deficiency in malignant hyperthermia-susceptible individuals.

British Journal Of Anaesthesia
Chang, Leon L; Daly, Catherine C; Miller, Dorota M DM; Allen, Paul D PD; Boyle, John P JP; Hopkins, Philip M PM; Shaw, Marie-Anne MA
Publication Date: 2019-05

Variant appearance in text: RYR1: 12860C>T
PubMed Link: 30916033
Variant Present in the following documents:
  • Main text
View BVdb publication page