Variant information



Systematic Name c.[897C>T(;)1155_1200del46]
Protein name p.[Thr299Thr(;)Leu386fs]
Mutation type Silent, frameshift insertion or deletion
Domain TRD, 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.[897C>T(;)1155_1200del46] p.[Thr299Thr(;)Leu386fs] Silent, frameshift insertion or deletion TRD, C-term Mutation associated with disease Female Rett syndrome-Atypical 435