Variant: rs1060502227 

    present in Gene: SPAST
    present in Chromosome: 2
    Position on Chromosome: 32136593
    Alleles of this Variant: C/G;T

rs1060502227 in SPAST gene and Spastic paraplegia 4, autosomal dominant PMID 15841487 2005 Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.

PMID 20718791 2011 Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.

PMID 11843700 2002 Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.

PMID 11809724 2002 Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.

PMID 22960362 2012 Novel and recurrent spastin mutations in a large series of SPG4 Italian families.

PMID 10699187 2000 Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

PMID 20214791 2010 Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements.

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