Variant information
| Systematic Name | c.1156_1172del17 |
|---|---|
| Protein name | p.Leu386* |
| 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.1156_1172del17 | p.Leu386* | frameshift insertion or deletion | C-term | Mutation associated with disease | Female | Rett syndrome-Classical | 936 |
| 2 | c.1156_1172del17 | p.Leu386* | frameshift insertion or deletion | C-term | Mutation associated with disease | Female | Rett syndrome-not certain | 3296 |