SMN1

Gene name: survival of motor neuron 1, telomeric
OMIM ID: 600354
Chromosome location: 5q13.2

Mutations

Disease/Phenotype	Spinal muscular atrophy-1
DNA Change	Exon deletion
A.A. Change
Exon/Intron	exon 7
Mutation Type	deletion
Reference	Bouhouche 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.

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Disease/Phenotype	Spinal muscular atrophy-2
DNA Change	Exon deletion
A.A. Change
Exon/Intron	exon 7
Mutation Type	deletion
Reference	Bouhouche 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.

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Disease/Phenotype	Spinal muscular atrophy-3
DNA Change	Exon deletion
A.A. Change
Exon/Intron	exon 7
Mutation Type	deletion
Reference	Bouhouche 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.

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Disease/Phenotype	Spinal muscular atrophy-4
DNA Change	Exon deletion
A.A. Change
Exon/Intron	exon 7
Mutation Type	deletion
Reference	Bouhouche 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.

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Disease/Phenotype	Spinal muscular atrophy-1
DNA Change	Exons deletion
A.A. Change
Exon/Intron	exon 7 and 8
Mutation Type	deletion
Reference	They-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.

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  Variant not named according to HGVS recommendations