Variant: rs1064793161 

    present in Gene: KIF1A
    present in Chromosome: 2
    Position on Chromosome: 240775889
    Alleles of this Variant: C/T

rs1064793161 in KIF1A gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 PMID 27034427 2016 Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.

PMID 26354034 2015 De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.

rs1064793161 in KIF1A gene and NEUROPATHY, HEREDITARY SENSORY, TYPE IIC PMID 26354034 2015 De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.

PMID 27034427 2016 Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.

rs1064793161 in KIF1A gene and SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder) PMID 26354034 2015 De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.

PMID 27034427 2016 Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.