Variant information



Systematic Name c.784C>T
Protein name p.Gln262*
Mutation type nonsense
Domain 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.784C>T p.Gln262* nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3800
2 c.784C>T p.Gln262* nonsense TRD-NLS Mutation associated with disease Female Not Known 4098