Variant information



Systematic Name c.146C>A
Protein name p.Ser49*
Mutation type Nonsense
Domain N-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.146C>A p.Ser49* Nonsense N-term Mutation associated with disease Unknown Rett syndrome-Not certain 236
2 c.146C>A p.Ser49* Nonsense N-term Mutation associated with disease Female Not Known 1755
3 c.146C>A p.Ser49* Nonsense N-term Mutation associated with disease Female Rett syndrome-Atypical 2338
4 c.146C>A p.Ser49* nonsense N-term Mutation associated with disease Female Rett syndrome-classical 6602