KIF1C
Gene name: kinesin family member 1COMIM ID: 603060
Chromosome location: 17p13.2
Mutations
| Disease/Phenotype | Spastic ataxia 2, autosomal recessive |
|---|---|
| Reference transcript | NM_006612.5 |
| DNA Change | c.505C>T |
| A.A. Change | p.Arg169Trp |
| Exon/Intron | exon 7 |
| Mutation Type | substitution |
| Reference | Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, Gaussen M, Meyer V, Durr A, Brice A, Benomar A, Stevanin G, Schuelke M, Edvardson S.KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. J Med Genet. 2014 Feb;51(2):137-42. |