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