Variant information



Systematic Name c.1079C>A
Protein name p.Ser360*
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.1079C>A p.Ser360* Nonsense C-term Mutation associated with disease Female Rett syndrome-Not certain 1107