Variant information



Systematic Name c.488_489delGG
Protein name p.Gly163fs
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.488_489delGG p.Gly163fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Male Not Rett synd. 1239
2 c.488_489delGG p.Gly163fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 1240