Variant: rs797045050 

    present in Gene: KIF1A
    present in Chromosome: 2
    Position on Chromosome: 240797715
    Alleles of this Variant: C/T

rs797045050 in KIF1A gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 PMID 28834584 2017 A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.

rs797045050 in KIF1A gene and NEUROPATHY, HEREDITARY SENSORY, TYPE IIC PMID 28834584 2017 A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.

rs797045050 in KIF1A gene and SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder) PMID 28834584 2017 A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.

rs797045050 in KIF1A gene and Spastic Paraplegia PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.