Variant: rs797045164 

    present in Gene: KIF1A
    present in Chromosome: 2
    Position on Chromosome: 240785063
    Alleles of this Variant: G/A

rs797045164 in KIF1A gene and Athetosis PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs797045164 in KIF1A gene and Cortical visual impairment PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs797045164 in KIF1A gene and Infantile muscular hypotonia PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs797045164 in KIF1A gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 26125038 2015 De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.

PMID 25265257 2015 De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.

PMID 26410750 2015 Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.

rs797045164 in KIF1A gene and Metatarsus Varus PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs797045164 in KIF1A gene and PEHO syndrome PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs797045164 in KIF1A gene and Paraparesis, Spastic PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs797045164 in KIF1A gene and Scoliosis, unspecified PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.