Variant information



Systematic Name c.567dupA
Protein name p.Arg190fs
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.567dupA p.Arg190fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1969
2 c.567dupA p.Arg190fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Female Not Known 1970