Variant information



Systematic Name c.566dupG
Protein name p.Arg190fs
Mutation type frameshift insertion or deletion
Domain inter-domain region
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.566dupG p.Arg190fs frameshift insertion or deletion inter-domain region Mutation associated with disease Female Rett syndrome-Classical 4374