Variant: rs118192140 

    present in Gene: RYR1
    present in Chromosome: 19
    Position on Chromosome: 38573304
    Alleles of this Variant: C/T

rs118192140 in RYR1 gene and MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) PMID 17483490 2007 Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

PMID 22473935 2012 Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.