Variant information



Systematic Name c.608C>T
Protein name p.Thr203Met
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.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Female Rett syndrome-atypical 217
2 c.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Female Rett syndrome-Not certain 1126
3 c.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Unknown Rett syndrome-Not certain 1371
4 c.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Male Not Rett synd. 1547
5 c.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Female Rett syndrome-Not certain 1850
6 c.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Male Not Rett synd. 1851
7 c.608C>T p.Thr203Met Missense Inter-domain region Polymorphism not causing disease Female Not Known 2123
8 c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Male Rett syndrome-male variant 4222
9 c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Female Not Known 4471
10 c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Female Not Rett synd. 4472
11 c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Female Not Known 4473
12 c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Female Rett syndrome-not certain 4752
13 c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Female Rett syndrome-atypical 4859
14 c.608C>T p.Thr203Met missense inter-domain region Polymorphism not causing disease Male Not Rett synd. 4860
15 c.608C>T missense Inter-domain region Polymorphism not causing disease Male Not Rett synd. 6911