Variant information



Systematic Name c.28G>T
Protein name p.Glu10*
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.28G>T p.Glu10* nonsense N-term Mutation associated with disease Female Rett syndrome-not certain 3168