Variant information
Systematic Name (NM_004992.3:) |
c.1158_1200del43 |
---|---|
Protein name (NP_004983) |
p.Pro387fs |
Alternate systematic Name (NM_001110792.1:) |
c.1194_1236del43 |
Alternate Protein name (NP_001104262) |
p.(Pro399Alafs*8) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296079_153296121del43 |
Mutation type | frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1158_1200del43 | p.Pro387fs | Unknown | Rett syndrome-Not certain | 259 | A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906 | View details |
2 | c.1158_1200del43 | p.Pro387fs | Female | Rett syndrome-not certain | 3310 | 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 |