Variant information


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

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.889C>T p.Gln297* Female 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 View details
2 c.889C>T p.Gln297* Female 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 View details