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

SLC25A46

Gene name: solute carrier family 25 member 46
OMIM ID: 610826
Chromosome location: 5q22.1

Mutations

Disease/PhenotypeNeuropathy, hereditary motor and sensory, type VIB
Reference transcriptNM_138773.3
DNA Changec.283+3G>T
A.A. Change
Exon/Intronintron 1
Mutation Typesubstitution
ReferenceNguyen M, Boesten I, Hellebrekers D, Mulder-den Hartog NM, de Coo I, Smeets H, Gerards M. Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.
Clin Genet. 2016 Mar 8. doi: 10.1111/cge.12774. [Epub ahead of print]