Proband information
Proband id | 236 |
---|---|
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 |
Evidence of Pathogenicity | |
Detection | |
Extent | |
Source of DNA | |
Carrier | |
Carrier result | |
Other mutations | NK |
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.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 | |
2 | c.146C>A | p.Ser49* | Female | Not Known | 1755 | :Friez, Michael:: | |
3 | c.146C>A | p.Ser49* | Female | Rett syndrome-Atypical | 2338 | :Cardiff, UK:: | |
4 | c.146C>A | p.Ser49* | Female | Rett syndrome-classical | 6602 | ::: |