Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Silent
Domain TRD
Pathogenicity Silent polymorphism

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.750C>T p.Arg250Arg Female Not Rett synd. 1238 MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283 View details
2 c.750C>T p.Arg250Arg Female Rett syndrome-Not certain 1633 :Bunyan, D.:: View details
3 c.750C>T p.Arg250Arg Unknown Not Rett synd. 5191 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