Variant information



Systematic Name c.601dupG
Protein name p.Ala201fs
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.601dupG p.Ala201fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Unknown Rett syndrome-Not certain 135