Variant information
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 |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.27-2A>G | intronic variation | Female | Rett syndrome-Not certain | 1859 | :Bunyan, D.:: | View details |
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 | View details |
3 | c.27-2A>G | intronic variation | Female | Rett syndrome-classical | 6352 | ::: | View details |
4 | c.27-2A>G | intronic variation | Female | Rett syndrome-classical | 6351 | ::: | View details |