Variant information

Systematic Name c.617delG
Protein name p.Gly206fs
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.617delG p.Gly206fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Female Rett syndrome-Classical 2091