Variant information



Systematic Name c.[27-5690_1208del7628ins42];[439G>A]
Protein name p.[Arg9fs];[Asp147Asn]
Mutation type frameshift combined insertion and deletion, missense
Domain N-term, MBD
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.[27-5690_1208del7628ins42];[439G>A] p.[Arg9fs];[Asp147Asn] frameshift combined insertion and deletion, missense N-term, MBD Mutation associated with disease Female Rett syndrome-classical 2906