Variant information

Systematic Name c.343_1282del
Protein name p.Arg115_Glu394del
Mutation type in-frame insertion or deletion
Domain MBD, inter-domain, TRD, TRD-NLS, C-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.343_1282del p.Arg115_Glu394del in-frame insertion or deletion MBD, inter-domain, TRD, TRD-NLS, C-term Mutation associated with disease Female Rett syndrome-not certain 4306