Variant information

Systematic Name c.1452_1453dup
Protein name p.Val485fs
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.1452_1453dup p.Val485fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 4392