Variant information



Systematic Name c.674C>G
Protein name p.Pro225Arg
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.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Female Rett syndrome-Classical 302
2 c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Female Rett syndrome-Classical 335
3 c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1249
4 c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1250
5 c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1251
6 c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Unknown Rett syndrome-atypical 1523
7 c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1634
8 c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1651
9 c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2173
10 c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Female Not Known 2489
11 c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Female Rett syndrome-Classical 2597
12 c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Female Rett syndrome-classical 3000
13 c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Female Rett syndrome-not certain 3138
14 c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Female Rett syndrome-not certain 3139
15 c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Female Rett syndrome-not certain 3451
16 c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Female Rett syndrome-not certain 3558
17 c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Female Rett syndrome-not certain 4746
18 c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Female Rett syndrome-classical 4812
19 c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Female Not Known 6739
20 c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Female Rett syndrome-classical 6585