Variant information



Systematic Name c.1123_1191del69
Protein name p.Ser375_Glu397del
Mutation type In-frame insertion or deletion
Domain C-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1123_1191del69 p.Ser375_Glu397del In-frame insertion or deletion C-term Unknown Unknown Rett syndrome-Not certain 854