Variant: rs121434441 

    present in Gene: KIF5A
    present in Chromosome: 12
    Position on Chromosome: 57569015
    Alleles of this Variant: A/G

rs121434441 in KIF5A gene and Spastic paraplegia 10, autosomal dominant PMID 21107874 2011 A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.

PMID 16476820 2006 A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.

PMID 18245137 2008 SPG10 is a rare cause of spastic paraplegia in European families.

PMID 18203753 2008 Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.

PMID 18853458 2009 Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

PMID 15452312 2004 Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia.

PMID 12355402 2002 A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).

PMID 16489470 2006 Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia.