Proband information
Proband id | 258 |
---|---|
Systematic Name (NM_004992.3:) |
c.1157_1187del31 |
Protein name (NP_004983) |
p.Leu386fs |
Alternate systematic Name (NM_001110792.1:) |
c.1193_1223del31 |
Alternate Protein name (NP_001104262) |
p.(Leu398Profs*13) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296092_153296122del31 |
Mutation type | Frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | |
Extent | |
Source of DNA | |
Carrier | |
Carrier result | |
Other mutations | |
X-inactivation results | |
X-inactivation relatives | |
Gender | Unknown |
Sporadic/Familial | |
Phenotype-class | Rett syndrome-Not certain |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1157_1187del31 | p.Leu386fs | Unknown | Rett syndrome-Not certain | 258 | 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 | |
2 | c.1157_1187del31 | p.Leu386fs | Female | Rett syndrome-not certain | 3510 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 |