Variant information


Systematic Name c.683C>G
Protein name
Mutation type Missense
Domain TRD
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA blood
Detection HRM, sequencing
Extent
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial NK
Phenotype-class Not Rett synd.-mental retardation
Reference MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotypeľphenotype correlations and validation of high-resolution melting analysis for mutation scanning:DanielaáZahorakova,PetraáLelkova,VladimiráGregor,MartináMagner,JiriáZeman and PaveláMartasek:Journal of Human Genetics: 26984561

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.683C>G p.Thr228Ser Missense TRD Polymorphism not causing disease Female Rett syndrome-Not certain 1632 :Bunyan, D.::
2 c.683C>G p.Thr228Ser missense TRD Polymorphism not causing disease Male Not Rett synd. 2752 Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Reboušas, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570
3 c.683C>G p.Thr228Ser missense TRD Polymorphism not causing disease Male Not Rett synd. 3032 Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644
4 c.683C>G p.Thr228Ser missense TRD Polymorphism not causing disease Female Not Rett synd. 4057 Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644
5 c.683C>G p.Thr228Ser missense TRD Polymorphism not causing disease Unknown Not Rett synd. 5190 MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759
6 c.683C>G Missense TRD Polymorphism not causing disease Female Rett syndrome-classical 6857 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotypeľphenotype correlations and validation of high-resolution melting analysis for mutation scanning:DanielaáZahorakova,PetraáLelkova,VladimiráGregor,MartináMagner,JiriáZeman and PaveláMartasek:Journal of Human Genetics: 26984561
7 c.683C>G Missense TRD Polymorphism not causing disease Female Not Rett synd. 6856 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotypeľphenotype correlations and validation of high-resolution melting analysis for mutation scanning:DanielaáZahorakova,PetraáLelkova,VladimiráGregor,MartináMagner,JiriáZeman and PaveláMartasek:Journal of Human Genetics: 26984561