RYR1 c.6521A>C ;(p.E2174A)

Variant ID: 19-38985238-A-C

NM_000540.2(RYR1):c.6521A>C;(p.E2174A)

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:

Evaluation of suspected malignant hyperthermia events during anesthesia.

Bmc Anesthesiology
Schuster, Frank F; Johannsen, Stephan S; Schneiderbanger, Daniel D; Roewer, Norbert N
Publication Date: 2013-09-23

Variant appearance in text: MHS: Glu2174Ala
PubMed Link: 24053352
Variant Present in the following documents:
  • Main text
  • 1471-2253-13-24.pdf
View BVdb publication page