Spastic ataxia 2, autosomal recessive
OMIM:611302Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system
Mutations
| Gene Symbol | KIF1C |
|---|---|
| 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. |