Variant information



Systematic Name c.27-12521_*5072del19784
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.27-12521_*5072del19784 p.Arg9fs Frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-Classical 2531