KIF1C, kinesin family member 1C, 10749

N. diseases: 49; N. variants: 9
Disease: ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777198
rs587777198
Entrez Id: 10749;388324
Gene Symbol: KIF1C;INCA1
KIF1C;INCA1
CUI: C1969796
Disease:
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) 		0.800 GeneticVariation UNIPROT Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
dbSNP: rs587777198
rs587777198
Entrez Id: 10749;388324
Gene Symbol: KIF1C;INCA1
KIF1C;INCA1
CUI: C1969796
Disease:
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) 		0.800 GeneticVariation UNIPROT KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. 24319291 2014
dbSNP: rs587777198
rs587777198
Entrez Id: 10749;388324
Gene Symbol: KIF1C;INCA1
KIF1C;INCA1
CUI: C1969796
Disease:
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1131690773
rs1131690773
Entrez Id: 10749
Gene Symbol: KIF1C
KIF1C
CUI: C1969796
Disease:
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) 		G 0.700 CausalMutation CLINVAR SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey. 28687974 2017
dbSNP: rs148934699
rs148934699
Entrez Id: 10749
Gene Symbol: KIF1C
KIF1C
CUI: C1969796
Disease:
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) 		T 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs202232792
rs202232792
Entrez Id: 10749
Gene Symbol: KIF1C
KIF1C
CUI: C1969796
Disease:
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) 		T 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs587777197
rs587777197
Entrez Id: 10749
Gene Symbol: KIF1C
KIF1C
CUI: C1969796
Disease:
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) 		T 0.700 CausalMutation CLINVAR Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
dbSNP: rs587777197
rs587777197
Entrez Id: 10749
Gene Symbol: KIF1C
KIF1C
CUI: C1969796
Disease:
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) 		T 0.700 CausalMutation CLINVAR KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. 24319291 2014
dbSNP: rs1064796693
rs1064796693
Entrez Id: 10749;388324
Gene Symbol: KIF1C;INCA1
KIF1C;INCA1
CUI: C1969796
Disease:
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs886041035
rs886041035
Entrez Id: 10749;388324
Gene Symbol: KIF1C;INCA1
KIF1C;INCA1
CUI: C1969796
Disease:
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) 		A 0.700 CausalMutation CLINVAR