Variant information



Systematic Name Not known
Protein name p.Ser373*
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 Not known p.Ser373* Nonsense C-term Mutation associated with disease Female Rett syndrome-Atypical 2337