Variant information



Systematic Name c.696delC
Protein name p.Lys233fs
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.696delC p.Lys233fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 187
2 c.696delC p.Lys233fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 1423
3 c.696delC p.Lys233fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 3265
4 c.696delC p.Lys233fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 3756
5 c.696delC p.Lys233fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 4376