Variant: rs387906799 

    present in Gene: KIF1A
    present in Chromosome: 2
    Position on Chromosome: 240788118
    Alleles of this Variant: G/A

rs387906799 in KIF1A gene and Atrophy of corpus callosum PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs387906799 in KIF1A gene and Cerebellar atrophy, progressive PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs387906799 in KIF1A gene and Hypsarrhythmia PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs387906799 in KIF1A gene and Infantile Spasm PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs387906799 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.

rs387906799 in KIF1A gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 PMID 25253658 2014 KIF1A mutation in a patient with progressive neurodegeneration.

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

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

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

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

rs387906799 in KIF1A gene and NEUROPATHY, HEREDITARY SENSORY, TYPE IIC PMID 25265257 2015 De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.

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

PMID 25253658 2014 KIF1A mutation in a patient with progressive neurodegeneration.

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

rs387906799 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.

rs387906799 in KIF1A gene and Profound intellectual disabilities PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs387906799 in KIF1A gene and SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder) PMID 26125038 2015 De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 25253658 2014 KIF1A mutation in a patient with progressive neurodegeneration.

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