Variant information



Systematic Name c.531delA
Protein name p.Lys177fs
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.531delA p.Lys177fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1247