Variant: rs140291094 

    present in Gene: STAC3
    present in Chromosome: 12
    Position on Chromosome: 57244322
    Alleles of this Variant: C/G

rs140291094 in STAC3 gene and Native American myopathy PMID 23736855 2013 Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.

PMID 29078335 2017 Structural insights into binding of STAC proteins to voltage-gated calcium channels.

PMID 28777491 2017 Horstick et al.(2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH).