Variant information



Systematic Name c.590C>T
Protein name p.Thr197Met
Mutation type missense
Domain inter-domain region
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.590C>T p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Female Rett syndrome-Not certain 46
2 c.590C>T p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Male Not Rett synd. 373
3 c.590C>T p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Female Not Rett synd. 375
4 c.590C>T p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Female Not Rett synd. 376
5 c.590C>T p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Male Not Rett synd. 1534
6 c.590C>T p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Female Not Rett synd. 1535
7 c.590C>T p.Thr197Met Missense Inter-domain region Polymorphism not causing disease Female Not Known 2124
8 c.590C>T p.Thr197Met missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 2747
9 c.590C>T p.Thr197Met missense inter-domain region Polymorphism not causing disease Female Rett syndrome-not certain 3515
10 c.590C>T p.Thr197Met missense inter-domain region Polymorphism not causing disease Female Not Rett synd. 3938
11 c.590C>T p.Thr197Met missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 3939
12 c.590C>T p.Thr197Met missense inter-domain region Polymorphism not causing disease Female Rett syndrome-classical 4858
13 c.590C>T p.Thr197Met missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 5076
14 c.590C>T missense Inter-domain region Polymorphism not causing disease Female Not Rett synd. 6908