Variant information


Systematic Name c.1194_1195insT
Protein name p.Pro399fs
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent exons 2-4
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1194_1195insT p.Pro399fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 933 MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719
2 c.1194_1195insT p.Pro399fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1670 :Friez, Michael::
3 c.1194_1195insT p.Pro399fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 2953 Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251