Variant information

Systematic Name c.[1077_1079delCTC(;) 1142C>T(;) 1157_1200del44]
Protein name p.[Ser360del(;) Pro381Leu(;) Leu386fs]
Mutation type frameshift insertion or deletion, missense
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.[1077_1079delCTC(;) 1142C>T(;) 1157_1200del44] p.[Ser360del(;) Pro381Leu(;) Leu386fs] frameshift insertion or deletion, missense C-term Mutation associated with disease Female Rett syndrome-classical 4902