Variant information



Systematic Name c.799A>T
Protein name p.Lys267*
Mutation type nonsense
Domain TRD-NLS
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.799A>T p.Lys267* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2889