Variant information



Systematic Name c.[1163_1173del11; 1176_1193del18]
Protein name p.Pro388fs
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.[1163_1173del11; 1176_1193del18] p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1120