Variant information



Systematic Name c.1-?_26+?del (Deletion of exons 1 and 2)
Protein name p.Met1?
Mutation type frameshift insertion of 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.1-?_26+?del (Deletion of exons 1 and 2) p.Met1? frameshift insertion of deletion N-term Mutation associated with disease Female Rett syndrome-classical 2907