Variant information



Systematic Name c.378-3_383del9
Protein name p.Asn126Lysfs*11
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.378-3_383del9 p.Asn126Lysfs*11 frameshift insertion or deletion MBD Mutation associated with disease Male Not Rett synd. 3827