Variant information
Systematic Name (NM_004992.3:) |
c.711_1269del559 |
---|---|
Protein name (NP_004983) |
p.Gly238fs |
Alternate systematic Name (NM_001110792.1:) |
c.747_1305del559 |
Alternate Protein name (NP_001104262) |
p.(Gly250Trpfs*58) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296010_153296568del559 |
Mutation type | frameshift insertion or deletion |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.711_1269del559 | p.Gly238fs | Female | Rett syndrome-not certain | 3266 | 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 | View details |