Variant information



Systematic Name c.1324_1364del41
Protein name p.Thr442fs
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.1324_1364del41 p.Thr442fs Frameshift insertion or deletion C-term Mutation associated with disease Female Not Known 1721
2 c.1324_1364del41 p.Thr442fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 6644