Variant information



Systematic Name c.1189G>T
Protein name p.Glu397*
Mutation type nonsense
Domain 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.1189G>T p.Glu397* nonsense C-term Mutation associated with disease Female Rett syndrome-not certain 4313