Variant information
Systematic Name (NM_004992.3:) |
c.676_677insA |
---|---|
Protein name (NP_004983) |
p.Phe226fs |
Alternate systematic Name (NM_001110792.1:) |
c.712_713insA |
Alternate Protein name (NP_001104262) |
p.(Phe238Tyrfs*10) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296602_153296603insT |
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.676_677insA | p.Phe226fs | Female | Rett syndrome-not certain | 3263 | 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 |
2 | c.676_677insA | p.Phe226fs | Female | Rett syndrome-not certain | 3264 | 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 |