Proband information


Proband id 2134
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
Evidence of Pathogenicity
Detection Not known
Extent Exons 2-4 (at least)
Source of DNA Blood or skin
Carrier Y
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 Gender Carrier result Phenotype Proband id Reference
1 c.633G>C p.Arg211Ser Female Father has variation Rett syndrome-Classical 2134 :Cardiff, UK::
2 c.633G>C p.Arg211Ser Male Relative of proband Not Rett synd. 2135 :Cardiff, UK::
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