Variant: rs772466166 

    present in Gene: SMN1;SMN2
    present in Chromosome: 5
    Position on Chromosome: 70951938
    Alleles of this Variant: C/A;T

rs772466166 in SMN1;SMN2 gene and Proximal weakness PMID 21542063 2011 A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy.

rs772466166 in SMN1;SMN2 gene and SPINAL MUSCULAR ATROPHY, TYPE IV PMID 21542063 2011 A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy.