Variant information



Systematic Name c.[26+22C>G(;) 808C>T]
Protein name p.Arg270*
Mutation type intronic variation, nonsense
Domain intronic, TRD-NLS
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.[26+22C>G(;) 808C>T] p.Arg270* intronic variation, nonsense intronic, TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2823
2 c.[26+22C>G(;) 808C>T] p.Arg270* intronic variation, nonsense intronic variation, TRD-NLS Mutation associated with disease Female Rett syndrome-classical 2831