Variant information



Systematic Name c.669_686conAL078639.5:g.94544_94611
Protein name p.Lys223Asnfs*12
Mutation type frameshift insertion or deletion
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.669_686conAL078639.5:g.94544_94611 p.Lys223Asnfs*12 frameshift insertion or deletion TRD, TRD-NLS, C-term Mutation associated with disease Female Rett syndrome-not certain 4318