Variant information



Systematic Name c.756_759delCAGG
Protein name p.Arg253fs
Mutation type Frameshift insertion or deletion
Domain TRD
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.756_759delCAGG p.Arg253fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 188
2 c.756_759delCAGG p.Arg253fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 3757