Variant information



Systematic Name c.411delG
Protein name p.Glu137fs
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.411delG p.Glu137fs Frameshift insertion or deletion MBD Mutation associated with disease Unknown Rett syndrome-Not certain 1484