Variant information



Systematic Name c.587C>G
Protein name p.Thr196Ser
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.587C>G p.Thr196Ser Missense Inter-domain region Polymorphism not causing disease Female Not Rett synd. 2368
2 c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Female Rett syndrome-Classical 2632
3 c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 3029
4 c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 3030
5 c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 3031
6 c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 3975
7 c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 4051
8 c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Female Not Rett synd. 4052
9 c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 4053
10 c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Female Not Rett synd. 4054
11 c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Female Not Rett synd. 4055
12 c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Female Not Rett synd. 4056
13 c.587C>G p.Thr196Ser missense inter-domain region Polymorphism not causing disease Unknown Not Rett synd. 4621
14 c.587C>G Missense inter-domain region Polymorphism not causing disease Female Not Rett synd. 6855