Variant information



Systematic Name c.667A>T
Protein name p.Lys223*
Mutation type nonsense
Domain TRD
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.667A>T p.Lys223* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6612