Variant information



Systematic Name c.1009_1027del19
Protein name p.Lys337fs
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.1009_1027del19 p.Lys337fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3284