RYR1 c.5926C>T ;(p.R1976C)

Variant ID: 19-38980827-C-T

NM_000540.2(RYR1):c.5926C>T;(p.R1976C)

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:

Dantrolene requires Mg2+ to arrest malignant hyperthermia.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Choi, Rocky H RH; Koenig, Xaver X; Launikonis, Bradley S BS
Publication Date: 2017-05-02

Variant appearance in text: MHS: Arg1976Cys
PubMed Link: 28373535
Variant Present in the following documents:
  • Main text
View BVdb publication page