Mendelian Diseases
Multifactorial Diseases
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

Spinal muscular atrophy-1

OMIM:253300
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system


Mutations

Gene SymbolSMN1
DNA ChangeExons deletion
A.A. Change
Exon/Intronexon 7 and 8
Mutation Typedeletion
ReferenceThey-They TP, Nadifi S, Dehbi H, Bellayou H, Brik H, Slassi I, Itri M.[Phenotype-genotype correspondence in spinal muscular atrophy in a Moroccan family].
Arch Pediatr. 2008 Jul;15(7):1201-5.
Gene SymbolSMN1
DNA ChangeExon deletion
A.A. Change
Exon/Intronexon 7
Mutation Typedeletion
ReferenceBouhouche A, Benomar A, Birouk N, Bouslam N, Ouazzani R, Yahyaoui M, Chkili T.High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients.
J Neurol. 2003 Oct;250(10):1209-13.

  Variant not named according to HGVS recommendations