Variant: rs1057516758 

    present in Gene: NEB
    present in Chromosome: 2
    Position on Chromosome: 151658088
    Alleles of this Variant: T/-

rs1057516758 in NEB gene and Nemaline Myopathy 2 PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.

PMID 16917880 2006 Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.