Variant information



Systematic Name c.[1161_1166del6; 1180_1205del26]
Protein name p.[Pro390_Pro391del;Glu394Profs*2]
Mutation type In-frame insertion or deletion, 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.[1161_1166del6; 1180_1205del26] p.[Pro390_Pro391del;Glu394Profs*2] In-frame insertion or deletion, frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1118