Variant information



Systematic Name c.1320dupT
Protein name p.Ala441fs
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.1320dupT p.Ala441fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-atypical 3752