Variant information



Systematic Name c.1164_1194del31
Protein name p.Pro391fs
Mutation type frameshift insertion or deletion
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.1164_1194del31 p.Pro391fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 4857