Variant information
Systematic Name | c.1135_1142delCCCGTGCC |
---|---|
Protein name | p.Pro379fs |
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.1135_1142delCCCGTGCC | p.Pro379fs | Frameshift insertion or deletion | C-term | Mutation associated with disease | Female | Not Rett synd. | 2000 |