Variant: rs121918358 

    present in Gene: SPG7
    present in Chromosome: 16
    Position on Chromosome: 89510539
    Alleles of this Variant: T/A

rs121918358 in SPG7 gene and Ataxia PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

rs121918358 in SPG7 gene and Dysarthria PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

rs121918358 in SPG7 gene and Muscle Spasticity PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

rs121918358 in SPG7 gene and Nystagmus PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

rs121918358 in SPG7 gene and SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE PMID 18200586 2008 A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.

PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

PMID 22571692 2013 SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.

PMID 24727571 2014 Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.