Variant information


Systematic Name c.1357C>T
Protein name p.Arg453*
Mutation type Nonsense
Domain C-term
Pathogenicity Mutation associated with disease

Proband information


Source of DNA Blood
Detection SSCP
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked Yes
Carrier result Neither parent is carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Preserved speech
Reference Study of MECP2 Gene in Rett Syndrome Variants and Autistic Girls (See also www.biobank.unisi.it ):Michele Zappella, Ilaria Meloni, Ilaria Longo, Roberto Canitano, Giuseppe Hayek, Lucia Rosaia, Francesca Mari, and Alessandra Renieri:American Journal of Medical Genetics: 12707946

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1357C>T p.Arg453* Nonsense C-term Mutation associated with disease Female Rett syndrome-Preserved speech 2388 Study of MECP2 Gene in Rett Syndrome Variants and Autistic Girls (See also www.biobank.unisi.it ):Michele Zappella, Ilaria Meloni, Ilaria Longo, Roberto Canitano, Giuseppe Hayek, Lucia Rosaia, Francesca Mari, and Alessandra Renieri:American Journal of Medical Genetics: 12707946
2 c.1357C>T p.Arg453* nonsense C-term Mutation associated with disease Female Not Known 4422 :Das, S., Dempsey, M. U. Chicago::