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 |