Variant: rs104893930 

    present in Gene: SMN2;SMN1
    present in Chromosome: 5
    Position on Chromosome: 70938845
    Alleles of this Variant: G/A

rs104893930 in SMN2;SMN1 gene and Muscular Atrophy, Spinal, Type II PMID 22510849 2012 Clinical utility gene card for: proximal spinal muscular atrophy.

PMID 9837824 1998 Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

PMID 21088113 2011 HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects.

PMID 9158159 1997 Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

PMID 10732802 1998 Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy.

PMID 17761659 2007 Consensus statement for standard of care in spinal muscular atrophy.

PMID 14715275 2004 Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.