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.