Variant information
Systematic Name (NM_004992.3:) |
c.633G>C |
---|---|
Protein name (NP_004983) |
p.Arg211Ser |
Alternate systematic Name (NM_001110792.1:) |
c.669G>C |
Alternate Protein name (NP_001104262) |
p.(Arg223Ser) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296646C>G |
Mutation type | missense |
Domain | TRD |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.633G>C | p.Arg211Ser | Female | Rett syndrome-Classical | 2134 | :Cardiff, UK:: | View details |
2 | c.633G>C | p.Arg211Ser | Male | Not Rett synd. | 2135 | :Cardiff, UK:: | View details |
3 | c.633G>C | p.Arg211Ser | Unknown | Not Rett synd. | 5189 | 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 | View details |