Variant information



Systematic Name c.679C>T
Protein name p.Gln227*
Mutation type nonsense
Domain 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.679C>T p.Gln227* nonsense TRD Mutation associated with disease Female Rett syndrome-classical 6584