Variant information



Systematic Name c.478dupA
Protein name p.Thr160fs
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.478dupA p.Thr160fs frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-classical 6637