Proband information


Proband id 2776
Systematic Name
(NM_004992.3:)
c.1266C>T
Protein name
(NP_004983)
p.Gly422Gly
Alternate systematic Name
(NM_001110792.1:)
c.1302C>T
Alternate Protein name
(NP_001104262)
p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296013G>A
Mutation type silent
Domain C-term
Pathogenicity Silent polymorphism
Evidence of Pathogenicity
Detection direct
Extent exons2-4
Source of DNA blood
Carrier N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-non-specfic mental retardation
Reference A new cohort of MECP2 mutation screening in unexplained mental retardation:Donzel-Javouhey, A., Thauvin-Robinet, C., Cusin, V., Madinier, N., Manceau, E., Dipanda, D., Dulieu, V., Mugneret, F., Huet, F., Teyssier, J.-R., Faivre, L.:American Journal of Medical Genetics Part A: 16763963

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1266C>T p.Gly422Gly Female Rett syndrome-Not certain 1911 :::
2 c.1266C>T p.Gly422Gly Female Not Rett synd. 2776 A new cohort of MECP2 mutation screening in unexplained mental retardation:Donzel-Javouhey, A., Thauvin-Robinet, C., Cusin, V., Madinier, N., Manceau, E., Dipanda, D., Dulieu, V., Mugneret, F., Huet, F., Teyssier, J.-R., Faivre, L.:American Journal of Medical Genetics Part A: 16763963
3 c.1266C>T p.Gly422Gly Female Rett syndrome-not certain 4758 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487
4 c.1266C>T p.Gly422Gly Unknown Not Rett synd. 5221 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