Variant: rs312262720 

    present in Gene: SPG11
    present in Chromosome: 15
    Position on Chromosome: 44657230
    Alleles of this Variant: AT/-

rs312262720 in SPG11 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.

rs312262720 in SPG11 gene and Spastic paraplegia 11, autosomal recessive PMID 22175763 2012 Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation.

PMID 18079167 2008 Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

PMID 18067136 2007 Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.

PMID 17717710 2007 SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.

PMID 17322883 2007 Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

PMID 18835492 2008 Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.

PMID 24833714 2014 Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

PMID 18332254 2008 Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity.

PMID 19438933 2009 Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.

PMID 22696581 2012 White and grey matter abnormalities in patients with SPG11 mutations.

PMID 27071356 2016 High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.

PMID 20110243 2010 SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.

PMID 19105190 2009 Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.

PMID 22237444 2012 Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations.