Variant information



Systematic Name c.[1051_1065del15; 1088_1115del28; 1138_1207del70]
Protein name p.[Pro351_Ser355del; Lys363fs]
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.[1051_1065del15; 1088_1115del28; 1138_1207del70] p.[Pro351_Ser355del; Lys363fs] frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3414