Variant information



Systematic Name c.1163_1197del35
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_1197del35 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 126
2 c.1163_1197del35 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 367
3 c.1163_1197del35 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3311
4 c.1163_1197del35 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-atypical 3747
5 c.1163_1197del35 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 4712