Variant information



Systematic Name c.-168-?_*?del
Protein name p.Met1?
Mutation type large 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.-168-?_*?del p.Met1? Frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-Classical 1980
2 c.-168-?_*?del p.Met1? large deletion N-term Mutation associated with disease Female Rett syndrome-classical 2762