rs1974586605
This variant is located in the KIF1C gene.
▶ClinVar annotation
Pathogenic★★★☆
2 submitters1 publicationAbout KIF1C
The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. Mutations in this gene are a cause of spastic ataxia 2, autosomal recessive. [provided by RefSeq, May 2014]
View all KIF1C variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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