Variant information
Systematic Name (NM_004992.3:) |
c.1156_1197del42 |
---|---|
Protein name (NP_004983) |
p.Leu386_Pro399del |
Alternate systematic Name (NM_001110792.1:) |
c.1192_1233del42 |
Alternate Protein name (NP_001104262) |
p.(Leu398_Pro411del) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296082_153296123del42 |
Mutation type | in-frame insertion or deletion |
Domain | C-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1156_1197del42 | p.Leu386_Pro399del | Female | Rett syndrome-not certain | 3298 | 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.1156_1197del42 | p.Leu386_Pro399del | Female | Rett syndrome-not certain | 3299 | 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 |
3 | c.1156_1197del42 | p.Leu386_Pro399del | Female | Rett syndrome-not certain | 3300 | 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 |