Variant information

Systematic Name c.[808C>T(;) 1326C>T]
Protein name p.[Arg270*(;) Thr442Thr]
Mutation type nonsense, silent
Domain 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.[808C>T(;) 1326C>T] p.[Arg270*(;) Thr442Thr] nonsense, silent TRD-NLS, C-term Mutation associated with disease Female Rett syndrome-classical 2825