Variant information



Systematic Name c.382_1189del808
Protein name p.Gln128fs
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.382_1189del808 p.Gln128fs frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-not certain 3258