Variant information



Systematic Name c.488_1189del702
Protein name p.Gly163_Ser396del
Mutation type in-frame 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.488_1189del702 p.Gly163_Ser396del in-frame insertion or deletion inter-domain region Mutation associated with disease Female Rett syndrome-not certain 3261