Variant information



Systematic Name c.883delT
Protein name p.Ser295fs
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.883delT p.Ser295fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 3281