Variant information



Systematic Name c.914_1172del259
Protein name p.Lys305fs
Mutation type Frameshift insertion or deletion
Domain TRD
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.914_1172del259 p.Lys305fs Frameshift insertion or deletion TRD Mutation associated with disease Unknown Rett syndrome-Not certain 143