Variant information



Systematic Name c.27-4722_*112delinsCACTTTGTG
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.27-4722_*112delinsCACTTTGTG p.Arg9fs frameshift combined insertion and deletion N-term Mutation associated with disease Female Rett syndrome-not certain 3343