Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

KIF1C

Gene name: kinesin family member 1C
OMIM ID: 603060
Chromosome location: 17p13.2

Mutations

Disease/PhenotypeSpastic ataxia 2, autosomal recessive
Reference transcriptNM_006612.5
DNA Changec.505C>T
A.A. Changep.Arg169Trp
Exon/Intronexon 7
Mutation Typesubstitution
ReferenceDor 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.