Variant information
| Systematic Name | c.100_103delGATA |
|---|---|
| Protein name | p.Asp34fs |
| Mutation type | Frameshift insertion or deletion |
| Domain | N-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.100_103delGATA | p.Asp34fs | Frameshift insertion or deletion | N-term | Mutation associated with disease | Female | Rett syndrome-Classical | 468 |
| 2 | c.100_103delGATA | p.Asp34fs | Frameshift insertion or deletion | N-term | Mutation associated with disease | Unknown | Rett syndrome-classical | 1525 |