Variant information



Systematic Name c.[1004_1037del; 1051_1054del; 1059_1072del; 1161_*2598del]
Protein name p.Gly335fs
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.[1004_1037del; 1051_1054del; 1059_1072del; 1161_*2598del] p.Gly335fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3341