Variant information



Systematic Name c.[880C>T];[1326C>T]
Protein name p.[Arg294*];[Thr442Thr]
Mutation type Nonsense, silent
Domain TRD, 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.[880C>T];[1326C>T] p.[Arg294*];[Thr442Thr] Nonsense, silent TRD, C-term Mutation associated with disease Unknown Rett syndrome-Not certain 128