Variant information



Systematic Name c.409_1158del
Protein name p.Glu137_Leu386del
Mutation type in-frame insertion or deletion
Domain MBD, inter-domain region, 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.409_1158del p.Glu137_Leu386del in-frame insertion or deletion MBD, inter-domain region, TRD, TRD-NLS, C-term Mutation associated with disease Female Rett syndrome-classical 4866