Variant information



Systematic Name c.611_612delinsAG
Protein name p.Ser204*
Mutation type frameshift combined insertion and 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.611_612delinsAG p.Ser204* frameshift combined insertion and deletion Inter-domain region Mutation associated with disease Female Rett syndrome-Not certain 1873