Variant information



Systematic Name c.917G>A
Protein name p.Arg306His
Mutation type Missense
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.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 3
2 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Classical 413
3 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Classical 467
4 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Not Known 476
5 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1062
6 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1617
7 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1630
8 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1827
9 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1906
10 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-classical 1929
11 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Atypical 2321
12 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Atypical 2328
13 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2331
14 c.917G>A p.Arg306His Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2332
15 c.917G>A p.Arg306His missense TRD Mutation associated with disease Female Rett syndrome-not certain 3159
16 c.917G>A p.Arg306His missense TRD Mutation associated with disease Female Rett syndrome-not certain 3160
17 c.917G>A p.Arg306His missense TRD Mutation associated with disease Female Rett syndrome-not certain 3161
18 c.917G>A p.Arg306His missense TRD Mutation associated with disease Female Rett syndrome-not certain 3162
19 c.917G>A p.Arg306His missense TRD Mutation associated with disease Female Not Known 4512