Variant information



Systematic Name c.1408_1411del4insTG
Protein name p.Asn470Trpfs*16
Mutation type combined frameshift insertion and deletion
Domain C-term
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.1408_1411del4insTG p.Asn470Trpfs*16 combined frameshift insertion and deletion C-term Mutation associated with disease Female Rett syndrome-not certain 5251