Proband information


Proband id 2388
Systematic Name
(NM_004992.3:)		 c.1357C>T
Protein name
(NP_004983)		 p.Arg453*
Alternate systematic Name
(NM_001110792.1:)		 c.1393C>T
Alternate Protein name
(NP_001104262)		 p.(Arg465*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295922G>A
Mutation type Nonsense
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection SSCP
Extent Exons 2-4
Source of DNA Blood
Carrier Y
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 Gender Carrier result Phenotype Proband id Reference
1 c.1357C>T p.Arg453* Female Neither parent is carrier 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* Female Not Known 4422 :Das, S., Dempsey, M. U. Chicago::