Variant information



Systematic Name c.865A>T
Protein name p.Lys289*
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.865A>T p.Lys289* Nonsense TRD Mutation associated with disease Female Rett syndrome-Classical 2105