Variant: rs104893927 

    present in Gene: SMN2;SMN1
    present in Chromosome: 5
    Position on Chromosome: 70942367
    Alleles of this Variant: G/C

rs104893927 in SMN2;SMN1 gene and Juvenile Spinal Muscular Atrophy PMID 10732817 1997 Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.

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

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

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