Variant information



Systematic Name c.167_168delCC
Protein name p.Pro56fs
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.167_168delCC p.Pro56fs Frameshift insertion or deletion N-term Mutation associated with disease Male Not Known 1024
2 c.167_168delCC p.Pro56fs Frameshift insertion or deletion N-term Mutation associated with disease Male Not Rett synd. 1155