Variant: rs1554066397

present in Gene: SMN1;SMN2 present in Chromosome: 5 Position on Chromosome: 70925108 Alleles of this Variant: C/G;T

rs1554066397 in SMN1;SMN2 gene and Atrophic 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.

rs1554066397 in SMN1;SMN2 gene and Juvenile 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.

rs1554066397 in SMN1;SMN2 gene and Proximal muscle weakness 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.