Proband information
Proband id | 2974 |
---|---|
Systematic Name (NM_004992.3:) |
c.27-2A>G |
Protein name (NP_004983) |
intronic variation |
Alternate systematic Name (NM_001110792.1:) |
c.63-2A>G |
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153298010T>C |
Mutation type | intronic variation |
Domain | N-term |
Pathogenicity | Mutation associated with disease |
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 | Rett syndrome-atypical |
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.27-2A>G | intronic variation | Female | Rett syndrome-Not certain | 1859 | :Bunyan, D.:: | |
2 | c.27-2A>G | intronic variation | Female | Rett syndrome-atypical | 2974 | 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.27-2A>G | intronic variation | Female | Rett syndrome-classical | 6352 | ::: | |
4 | c.27-2A>G | intronic variation | Female | Rett syndrome-classical | 6351 | ::: |