Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1194_1195insT p.Pro399fs 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 View details
2 c.1194_1195insT p.Pro399fs Female Not Known 1670 :Friez, Michael:: View details
3 c.1194_1195insT p.Pro399fs 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 View details