Variant information
Systematic Name (NM_004992.3:) |
c.908T>G |
---|---|
Protein name (NP_004983) |
p.Ile303Ser |
Alternate systematic Name (NM_001110792.1:) |
c.944T>G |
Alternate Protein name (NP_001104262) |
p.(Ile315Ser) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296371A>C |
Mutation type | missense |
Domain | TRD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.908T>G | p.Ile303Ser | Female | Rett syndrome-not certain | 3141 | 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 |