Variant information



Systematic Name c.[502C>T; 1136_1142del7]
Protein name p.Arg168*
Mutation type nonsense, frameshift insertion or deletion
Domain MBD, 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.[502C>T; 1136_1142del7] p.Arg168* nonsense, frameshift insertion or deletion MBD, C-term Mutation associated with disease Female Rett syndrome-not certain 3853