Variant information



Systematic Name c.[1123_1189del;1249_1270del]
Protein name p.Ser375Argfs*12
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.[1123_1189del;1249_1270del] p.Ser375Argfs*12 frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-atypical 5134