Variant information


Systematic Name c.903C>T
Protein name p.Leu301Leu
Mutation type Silent
Domain TRD
Pathogenicity Silent polymorphism

Proband information


Source of DNA Blood
Detection DHPLC
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
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 Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.903C>T p.Leu301Leu Silent TRD Silent polymorphism Female Rett syndrome-Classical 1432 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