Variant information



Systematic Name c.[1063_1188del126; 1189_1231inv; 1232_1236del5]
Protein name p.Ser355fs
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.[1063_1188del126; 1189_1231inv; 1232_1236del5] p.Ser355fs frameshift insertion or deletion c-term Mutation associated with disease Female Rett syndrome-Classical 2621