Variant information
Systematic Name | c.1151_1191del41 |
---|---|
Protein name | p.Pro384fs |
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.1151_1191del41 | p.Pro384fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Female | Rett syndrome-preserved speech | 2886 |