Variant information



Systematic Name c.1157_1188del32
Protein name p.Leu386fs
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.1157_1188del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Preserved speech 1181
2 c.1157_1188del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1257
3 c.1157_1188del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 1545
4 c.1157_1188del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 1546
5 c.1157_1188del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2115
6 c.1157_1188del32 p.Leu386fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 2116
7 c.1157_1188del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-atypical 2973
8 c.1157_1188del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3297
9 c.1157_1188del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3304
10 c.1157_1188del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3357
11 c.1157_1188del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3509
12 c.1157_1188del32 p.Leu386fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 4709