Variant information



Systematic Name c.554delG
Protein name p.Gly185fs
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.554delG p.Gly185fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1109