Variant information



Systematic Name c.[1161_1166del6; 1180_1205del26]
Protein name p.[Pro390_Pro391del; Glu394fs]
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.[1161_1166del6; 1180_1205del26] p.[Pro390_Pro391del; Glu394fs] frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6675