Variant information



Systematic Name c.[203C>G;1094_1138del45]
Protein name p.Ser68*
Mutation type nonsense, in-frame insertion or deletion
Domain N-term, 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.[203C>G;1094_1138del45] p.Ser68* nonsense, in-frame insertion or deletion N-term, C-term Mutation associated with disease Female Rett syndrome-not certain 5243