Variant information



Systematic Name c.695dupG
Protein name p.Lys233fs
Mutation type frameshift insertion or deletion
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.695dupG p.Lys233fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 4317
2 c.695dupG p.Lys233fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 6635