Variant information
| Systematic Name | c.1152_*29del |
|---|---|
| Protein name | p.Pro385_Ser486delinsAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu |
| Mutation type | in-frame 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.1152_*29del | p.Pro385_Ser486delinsAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu | in-frame insertion or deletion | C-term | Mutation associated with disease | Female | Rett syndrome-atypical | 5071 |