Variant information



Systematic Name c.1450_*12del24
Protein name p.Val485_Ser486delins21
Mutation type In-frame 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.1450_*12del24 p.Val485_Ser486delins21 In-frame insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Atypical 406