Variant: rs119476050 

    present in Gene: ATL1
    present in Chromosome: 14
    Position on Chromosome: 50628154
    Alleles of this Variant: C/T

rs119476050 in ATL1 gene and Movement Disorders PMID 23483706 2013 Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.

PMID 17502470 2007 Hereditary spastic paraplegia 3A associated with axonal neuropathy.

PMID 20932283 2010 Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

rs119476050 in ATL1 gene and Spastic paraplegia 3, autosomal dominant PMID 19459885 2009 Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype.

PMID 16401858 2006 SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.

PMID 20932283 2010 Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

PMID 25454648 2014 Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia.

PMID 23483706 2013 Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.

PMID 19768483 2010 Complex phenotype in an Italian family with a novel mutation in SPG3A.

PMID 26671083 2015 Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.

PMID 21336785 2011 Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation.

PMID 15184642 2004 Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene.

PMID 15596607 2004 Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.

PMID 24417445 2014 'When atlastin meets spastin'.

PMID 24451228 2014 Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.