Variant information

Systematic Name c.378-?_1170+?del
Protein name p.Asn126fs
Mutation type frameshift insertion or deletion
Domain MBD
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.378-?_1170+?del p.Asn126fs frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-not certain 3618