Variant information



Systematic Name c.[1197_1237inv; 1238_1266del]
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.[1197_1237inv; 1238_1266del] p.Thr400fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3321