Variant information



Systematic Name c.1078_*2524del2908
Protein name p.Ser360fs
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.1078_*2524del2908 p.Ser360fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3286