Variant information



Systematic Name c.1454_1457del4
Protein name p.Val485fs
Mutation type Frameshift insertion or deletion
Domain C-term
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1454_1457del4 p.Val485fs Frameshift insertion or deletion C-term Unknown Female Rett syndrome-Not certain 44
2 c.1454_1457del4 p.Val485fs frameshift insertion or deletion C-term Unknown Female Rett syndrome-not certain 3324