Variant information



Systematic Name c.1357C>T
Protein name p.Arg453*
Mutation type Nonsense
Domain 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.1357C>T p.Arg453* Nonsense C-term Mutation associated with disease Female Rett syndrome-Preserved speech 2388
2 c.1357C>T p.Arg453* nonsense C-term Mutation associated with disease Female Not Known 4422