Variant information



Systematic Name c.480delT
Protein name p.Arg162fs
Mutation type frameshift insertion or deletion
Domain 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.480delT p.Arg162fs frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-not certain 3260