Variant: rs111272095 

    present in Gene: RYR1
    present in Chromosome: 19
    Position on Chromosome: 38466347
    Alleles of this Variant: C/T

rs111272095 in RYR1 gene and Malignant hyperthermia susceptibility type 1 PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 14870754 2004 Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002.