Variant information



Systematic Name c.611C>A
Protein name p.Ser204*
Mutation type nonsense
Domain inter-domain
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.611C>A p.Ser204* nonsense inter-domain Mutation associated with disease Female Rett syndrome-classical 6587