Variant information


Systematic Name c.633G>C
Protein name p.Arg211Ser
Mutation type Missense
Domain TRD
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA Blood or skin
Detection Not known
Extent Exons 2-4 (at least)
Number of chromosomes checked
Carrier status checked Yes
Carrier result Father has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Classical
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.633G>C p.Arg211Ser Missense TRD Polymorphism not causing disease Female Rett syndrome-Classical 2134 :Cardiff, UK::
2 c.633G>C p.Arg211Ser Missense TRD Polymorphism not causing disease Male Not Rett synd. 2135 :Cardiff, UK::
3 c.633G>C p.Arg211Ser missense TRD Polymorphism not causing disease 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