Proband information


Proband id 2135
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 Not known
Source of DNA Blood or skin
Carrier NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Not known
Phenotype-class Not Rett synd.-Unaffected family member
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