Variant: rs587777528 

    present in Gene: ORAI1
    present in Chromosome: 12
    Position on Chromosome: 121641471
    Alleles of this Variant: C/T

rs587777528 in ORAI1 gene and MYOPATHY, TUBULAR AGGREGATE, 2 PMID 24591628 2014 Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.

PMID 28058752 2017 ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.