Variant information


Systematic Name c.1048_1095del48
Protein name p.Ser350_Glu365del
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 of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1048_1095del48 p.Ser350_Glu365del in-frame insertion or deletion C-term Unknown Female Rett syndrome-not certain 3521 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070