RYR1 c.1372_1374delinsCAT ;(p.L458H)

Variant ID: 19-38943586-TTG-CAT

NM_000540.2(RYR1):c.1372_1374delinsCAT;(p.L458H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


PharmGKB summary: very important pharmacogene information for CACNA1S.

Pharmacogenetics And Genomics
Sangkuhl, Katrin K; Dirksen, Robert T RT; Alvarellos, Maria L ML; Altman, Russ B RB; Klein, Teri E TE
Publication Date: 2020-02

Variant appearance in text: MHS: Leu458His
PubMed Link: 31851124
Variant Present in the following documents:
  • Main text
View BVdb publication page



Trauma, systemic inflammatory response syndrome, dietary supplements, illicit steroid use and a questionable malignant hyperthermia reaction.

Anesthesia And Analgesia
Capacchione, John F JF; Radimer, Matthew C MC; Sagel, Jeffrey S JS; Kraus, Gregory P GP; Sambuughin, Nyamkhishig N; Muldoon, Sheila M SM
Publication Date: 2009-03

Variant appearance in text: RYR1: Leu458His
PubMed Link: 19224800
Variant Present in the following documents:
  • Main text
View BVdb publication page