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Last update

21/6/2017

Phenotype: Spinal muscular atrophy-1

OMIM: 253300
Inheritance: Autosomal recessive
Classification: Diseases of the nervous system

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

SMN1 || c.399_402delAGAG

Gene/Locus:	SMN1
Dna Change:	c.399_402delAGAG
Protein Change:	p.Glu134SerfsX14
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 4
Transcript:	NM_022874.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	NA	15 Patients/10 families	NA	Cuscó I et al., 2003Cuscó I, López E, Soler-Botija C, Jesús Barceló M, Baiget M, Tizzano EF, . A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.. Hum. Mutat.. 2003; 22(2):136-43

References

Cuscó I, López E, Soler-Botija C, Jesús Barceló M, Baiget M, Tizzano EF, A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.Hum. Mutat.. 2003; 22(2):136-43

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Spinal muscular atrophy-1

References