Variant: rs141659620 

    present in Gene: SPG7
    present in Chromosome: 16
    Position on Chromosome: 89531961
    Alleles of this Variant: G/A;C

rs141659620 in SPG7 gene and Cerebellar Ataxia PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

rs141659620 in SPG7 gene and Dysarthria PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

rs141659620 in SPG7 gene and Muscle Spasticity PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

rs141659620 in SPG7 gene and Nystagmus PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

rs141659620 in SPG7 gene and SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE PMID 23733235 2013 Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.

PMID 21623769 2011 Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.

PMID 20186691 2010 Functional evaluation of paraplegin mutations by a yeast complementation assay.

PMID 23269439 2013 The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.

PMID 23065789 2012 Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

PMID 18799786 2008 Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.

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

PMID 25133958 2014 Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

PMID 17646629 2007 A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

PMID 9635427 1998 Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.

PMID 25034272 2014 Early-onset optic neuropathy as initial clinical presentation in SPG7.

PMID 22964162 2012 Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

PMID 27217339 2016 Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

PMID 23812641 2013 Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.

PMID 27790088 2016 Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.

PMID 16534102 2006 Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.