Variant information



Systematic Name c.26+25171_13878del50531ins14 (exons 3 and 4 deleted)
Protein name p.Arg9fs
Mutation type Frameshift combined insertion and 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.26+25171_13878del50531ins14 (exons 3 and 4 deleted) p.Arg9fs Frameshift combined insertion and deletion N-term Mutation associated with disease Female Rett syndrome-Classical 2532