Variant information

Systematic Name c.1028_1158del
Protein name p.Gly343Alafs*6
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.1028_1158del p.Gly343Alafs*6 frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-atypical 4890