Variant information



Systematic Name c.710dupG
Protein name p.Gly238fs
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.710dupG p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 32
2 c.710dupG p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 386
3 c.710dupG p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 1424
4 c.710dupG p.Gly238fs Frameshift insertion or deletion TRD Mutation associated with disease Female Not Known 1795
5 c.710dupG p.Gly238fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 2896
6 c.710dupG p.Gly238fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 5066
7 c.710dupG p.Gly238fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 6633