Variant information
Systematic Name (NM_004992.3:) |
c.146C>A |
---|---|
Protein name (NP_004983) |
p.Ser49* |
Alternate systematic Name (NM_001110792.1:) |
c.182C>A |
Alternate Protein name (NP_001104262) |
p.(Ser61*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297889G>T |
Mutation type | Nonsense |
Domain | N-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.146C>A | p.Ser49* | Unknown | Rett syndrome-Not certain | 236 | 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.146C>A | p.Ser49* | Female | Not Known | 1755 | :Friez, Michael:: | View details |
3 | c.146C>A | p.Ser49* | Female | Rett syndrome-Atypical | 2338 | :Cardiff, UK:: | View details |
4 | c.146C>A | p.Ser49* | Female | Rett syndrome-classical | 6602 | ::: | View details |