Variant information

Systematic Name c.543_544delTC
Protein name p.Pro182fs
Mutation type frameshift insertion or deletion
Domain inter-domain region
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.543_544delTC p.Pro182fs frameshift insertion or deletion inter-domain region Mutation associated with disease Female Rett syndrome-classical 3745