Variant information



Systematic Name c.1163_1188del26
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_1188del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 946
2 c.1163_1188del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Forme fruste 918
3 c.1163_1188del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1119
4 c.1163_1188del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1258
5 c.1163_1188del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 1478
6 c.1163_1188del26 p.Pro388fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 1940
7 c.1163_1188del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3062
8 c.1163_1188del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3317
9 c.1163_1188del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-forme fruste 3379
10 c.1163_1188del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 4416
11 c.1163_1188del26 p.Pro388fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6646