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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1194_1195insT p.Pro399fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 933
2 c.1194_1195insT p.Pro399fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1670
3 c.1194_1195insT p.Pro399fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 2953