Variant information



Systematic Name c.[880C>T(;)1233C>T]
Protein name p.[Arg294*(;)Ser411Ser]
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(;)1233C>T] p.[Arg294*(;)Ser411Ser] nonsense, silent TRD, C-term Mutation associated with disease Female Rett syndrome-Classical 4342