Variant: rs116171274 

    present in Gene: CYP7B1
    present in Chromosome: 8
    Position on Chromosome: 64596707
    Alleles of this Variant: G/A;T

rs116171274 in CYP7B1 gene and SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder) PMID 23812641 2013 Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.

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

PMID 22384504 2012 CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects.

PMID 24117163 2014 CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A.

PMID 19439420 2009 CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

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

rs116171274 in CYP7B1 gene and Spastic Paraplegia PMID 19439420 2009 CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

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

PMID 21541746 2012 Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations.

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

PMID 24117163 2014 CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A.

rs116171274 in CYP7B1 gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.