Variant information
Systematic Name (NM_004992.3:) |
c.117dupA |
---|---|
Protein name (NP_004983) |
p.Glu40fs |
Alternate systematic Name (NM_001110792.1:) |
c.153dupA |
Alternate Protein name (NP_001104262) |
p.(Glu52Argfs*5) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297918dupT |
Mutation type | frameshift insertion or deletion |
Domain | N-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.117dupA | p.Glu40fs | Female | Rett syndrome-not certain | 3256 | 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 |