Variant information



Systematic Name c.64A>T
Protein name p.Lys22*
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.64A>T p.Lys22* Nonsense N-term Mutation associated with disease Female Rett syndrome-Classical 1404
2 c.64A>T p.Lys22* Nonsense N-term Mutation associated with disease Female Rett syndrome-Classical 1459