Variant: rs397514675 

    present in Gene: STIM1
    present in Chromosome: 11
    Position on Chromosome: 3967663
    Alleles of this Variant: A/G

rs397514675 in STIM1 gene and MYOPATHY, TUBULAR AGGREGATE, 1 PMID 23332920 2013 Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

PMID 25326555 2014 Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.

PMID 25953320 2015 50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation.

PMID 24570283 2014 Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.