Variant information



Systematic Name c.1197dupC
Protein name p.Thr400fs
Mutation type frameshift insertion or deletion
Domain C-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.1197dupC p.Thr400fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 3410
2 c.1197dupC p.Thr400fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-atypical 3751
3 c.1197dupC p.Thr400fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6643