Variant information



Systematic Name c.[27-5862_1132del; 1157_1197del]
Protein name p.Arg9fs
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.[27-5862_1132del; 1157_1197del] p.Arg9fs frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-not certain 3347