Variant information



Systematic Name c.1162_1179del18
Protein name p.Pro388_Pro393del
Mutation type in-frame insertion or deletion
Domain C-term
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1162_1179del18 p.Pro388_Pro393del In-frame insertion or deletion C-term Polymorphism not causing disease Female Rett syndrome-Atypical 2183
2 c.1162_1179del18 p.Pro388_Pro393del in-frame insertion or deletion C-term Polymorphism not causing disease Male Not Rett synd. 4714