Variant information

Systematic Name c.[502C>T(;)1326C>T]
Protein name p.[Arg168*(;)Thr442Thr]
Mutation type nonsense, silent
Domain inter-domain region, 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.[502C>T(;)1326C>T] p.[Arg168*(;)Thr442Thr] nonsense, silent inter-domain region, C-term Mutation associated with disease Female Rett syndrome-classical 2820