Variant information

Systematic Name c.243dupC
Protein name p.Lys82fs
Mutation type frameshift insertion or deletion
Domain MBD
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.243dupC p.Lys82fs frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-classical 3750