Variant information



Systematic Name c.484dupA
Protein name p.Arg162fs
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.484dupA p.Arg162fs frameshift insertion or deletion inter-domain region Mutation associated with disease Female Rett syndrome-classical 4084