Variant information

Systematic Name c.994_998delAGCGG
Protein name p.Ser332fs
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.994_998delAGCGG p.Ser332fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 2336