Variant information



Systematic Name c.1135_1142del8
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_1142del8 p.Pro379fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 6669
2 c.1135_1142del8 p.Pro379fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 6668