Variant: rs555445835 

    present in Gene: RIF1;NEB
    present in Chromosome: 2
    Position on Chromosome: 151494212
    Alleles of this Variant: AG/-

rs555445835 in RIF1;NEB gene and Myopathies, Nemaline PMID 24056153 2015 Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene.

rs555445835 in RIF1;NEB gene and Nemaline Myopathy 2 PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.

PMID 24056153 2015 Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene.