Proband information
Proband id | 2977 |
---|---|
Systematic Name (NM_004992.3:) |
c.909C>G |
Protein name (NP_004983) |
p.Ile303Met |
Alternate systematic Name (NM_001110792.1:) |
c.945C>G |
Alternate Protein name (NP_001104262) |
p.(Ile315Met) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296370G>C |
Mutation type | missense |
Domain | TRD |
Pathogenicity | Unknown |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
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.- |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.909C>G | p.Ile303Met | Female | Not Rett synd. | 2977 | 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 | |
2 | c.909C>G | p.Ile303Met | Female | de novo, but not in brother with speech delay | Not Rett synd. | 4882 | Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 |