Variant: rs140253806 

    present in Gene: CASQ1
    present in Chromosome: 1
    Position on Chromosome: 160190881
    Alleles of this Variant: G/A;C;T

rs140253806 in CASQ1 gene and MYOPATHY, TUBULAR AGGREGATE, 1 PMID 28895244 2017 Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.