Proband information
Proband id | 2519 |
---|---|
Systematic Name (NM_004992.3:) |
c.422A>G |
Protein name (NP_004983) |
p.Tyr141Cys |
Alternate systematic Name (NM_001110792.1:) |
c.458A>G |
Alternate Protein name (NP_001104262) |
p.(Tyr153Cys) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296857T>C |
Mutation type | Missense |
Domain | MBD |
Pathogenicity | Unknown |
Evidence of Pathogenicity | 276 chromosomes tested and not found in 276 chromosomes |
Detection | CSGE |
Extent | exons 1-4 |
Source of DNA | Not known |
Carrier | Y |
Carrier result | Neither parent has variation |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Sporadic |
Phenotype-class | Rett syndrome-Atypical |
Reference | Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation:Tejada M-I, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá M:Clinical Genetics: 16879196 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.422A>G | p.Tyr141Cys | Female | Neither parent has variation | Rett syndrome-Atypical | 2519 | Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation:Tejada M-I, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá M:Clinical Genetics: 16879196 |
2 | c.422A>G | p.Tyr141Cys | Female | Rett syndrome-atypical | 2956 | Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251 | |
3 | c.422A>G | p.Tyr141Cys | Female | Rett syndrome-not certain | 3113 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
4 | c.422A>G | p.Tyr141Cys | Female | Rett syndrome-not certain | 3114 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
5 | c.422A>G | p.Tyr141Cys | Female | Rett syndrome-not certain | 3115 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |