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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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