Variant information



Systematic Name c.451delG
Protein name p.Asp151fs
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.451delG p.Asp151fs Frameshift insertion or deletion MBD Mutation associated with disease Unknown Rett syndrome-atypical 1526