Variant information

Systematic Name c.295_297delACC
Protein name p.Thr99del
Mutation type in-frame 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.295_297delACC p.Thr99del in-frame insertion or deletion MBD Mutation associated with disease Female Rett syndrome-classical 4181