Proband information
Proband id | 1421 |
---|---|
Systematic Name (NM_004992.3:) |
c.889C>T |
Protein name (NP_004983) |
p.Gln297* |
Alternate systematic Name (NM_001110792.1:) |
c.925C>T |
Alternate Protein name (NP_001104262) |
p.(Gln309*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296390G>A |
Mutation type | Nonsense |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | DHPLC |
Extent | Exons 2-4 |
Source of DNA | Blood |
Carrier | Y |
Carrier result | Neither parent has variation |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Not known |
Phenotype-class | Rett syndrome-Classical |
Reference | DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.889C>T | p.Gln297* | Female | Neither parent has variation | Rett syndrome-Classical | 1421 | DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237 |
2 | c.889C>T | p.Gln297* | Female | Neither parent has variation | Rett syndrome-Classical | 1422 | DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237 |