Variant information



Systematic Name c.201delG
Protein name p.Ser68fs
Mutation type Frameshift insertion or deletion
Domain N-term
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.201delG p.Ser68fs Frameshift insertion or deletion N-term Mutation associated with disease Unknown Rett syndrome-Not certain 1357