Variant information



Systematic Name c.[502C>T;880C>T]
Protein name p.Arg168*
Mutation type nonsense
Domain inter-domain region, TRD
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.[502C>T;880C>T] p.Arg168* nonsense inter-domain region, TRD Mutation associated with disease Female Rett syndrome-not certain 5242