Variant information



Systematic Name c.695delG
Protein name p.Gly232fs
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.695delG p.Gly232fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 186
2 c.695delG p.Gly232fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-atypical 1952
3 c.695delG p.Gly232fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 2092
4 c.695delG p.Gly232fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 3409
5 c.695delG p.Gly232fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 3755