Variant information



Systematic Name c.710delG
Protein name p.Gly237fs
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.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 1110
2 c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1358
3 c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1359
4 c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Unknown Rett syndrome-Not certain 1360
5 c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 1598
6 c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Female Not Known 1734
7 c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 1871
8 c.710delG p.Gly237fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 2093
9 c.710delG p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 3597
10 c.710delG p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 4070
11 c.710delG p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 4182
12 c.710delG p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 4706
13 c.710delG p.Gly237fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 6632