Variant: rs1174570887 

    present in Gene: SELENON
    present in Chromosome: 1
    Position on Chromosome: 25800232
    Alleles of this Variant: T/A;C;G

rs1174570887 in SELENON gene and Eichsfeld type congenital muscular dystrophy PMID 12192640 2002 Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

PMID 16779558 2006 Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.

PMID 23394784 2013 Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.