Variant information


Systematic Name c.1156_1197del42
Protein name p.Leu386_Pro399del
Mutation type in-frame insertion or deletion
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection SSCP, direct
Extent Exons 2-4
Evidence of Pathogenicity
Carrier status checked
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Rett syndrome-not certain
Reference Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1156_1197del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Female Rett syndrome-not certain 3298 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
2 c.1156_1197del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Female Rett syndrome-not certain 3299 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
3 c.1156_1197del42 p.Leu386_Pro399del in-frame insertion or deletion C-term Unknown Female Rett syndrome-not certain 3300 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305