Gene: KIF5A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555177629
rs1555177629
KIF5A
T 0.700 CausalMutation CLINVAR Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln). 26543653

2015
dbSNP: rs1555177629
rs1555177629
KIF5A
T 0.700 CausalMutation CLINVAR Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. 25008398

2014
dbSNP: rs1555177629
rs1555177629
KIF5A
T 0.700 CausalMutation CLINVAR Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2. 21623771

2012
dbSNP: rs1555177629
rs1555177629
KIF5A
T 0.700 CausalMutation CLINVAR Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. 18853458

2009
dbSNP: rs121434443
rs121434443
KIF5A
G 0.700 CausalMutation CLINVAR

dbSNP: rs387907285
rs387907285
KIF5A
A 0.700 CausalMutation CLINVAR

dbSNP: rs387907287
rs387907287
KIF5A
A 0.700 CausalMutation CLINVAR

dbSNP: rs121434444
rs121434444
KIF5A
0.010 GeneticVariation BEFREE WGS and replication studies identified three pathogenic variants in PPMS patients that cause neurological disorders sharing features with MS: KIF5A p.Ala361Val in spastic paraplegia 10; MLC1 p.Pro92Ser in megalencephalic leukodystrophy with subcortical cysts, and REEP1 c.606 + 43G>T in Spastic Paraplegia 31. 29908077

2018
dbSNP: rs121434441
rs121434441
KIF5A
0.010 GeneticVariation BEFREE Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model. 23209432

2012