Variant information



Systematic Name c.1132_1202del71
Protein name p.Ala378fs
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.1132_1202del71 p.Ala378fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 1369
2 c.1132_1202del71 p.Ala378fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-atypical 3761