Variant: rs118192177 

    present in Gene: RYR1
    present in Chromosome: 19
    Position on Chromosome: 38496283
    Alleles of this Variant: C/G;T

rs118192177 in RYR1 gene and Malignant hyperpyrexia due to anesthesia PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

PMID 9497245 1998 Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

PMID 10484775 1999 Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.

PMID 19919814 2010 Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met.

PMID 19648156 2009 Genetic variation in RYR1 and malignant hyperthermia phenotypes.

PMID 23919265 2013 Genotype-phenotype correlations in recessive RYR1-related myopathies.

PMID 12220451 2002 Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation.

PMID 11575529 2001 North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.