Variant information

Systematic Name c.1069_1071delAGC
Protein name p.Ser357del
Mutation type in-frame 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.1069_1071delAGC p.Ser357del in-frame insertion or deletion c-term Mutation associated with disease Female Rett syndrome-Classical 2622