Variant information



Systematic Name c.1157_1199del43
Protein name p.Leu386fs
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.1157_1199del43 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3301
2 c.1157_1199del43 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6651