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 |