Variant information



Systematic Name c.573delC
Protein name p.Ser194Alafs*16
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.573delC p.Ser194Alafs*16 frameshift insertion or deletion Inter-domain region Mutation associated with disease Female Rett syndrome-congenital onset 6738