Proband information


Proband id 2395
Systematic Name
(NM_004992.3:)		 c.720C>G
Protein name
(NP_004983)		 p.Thr240Thr
Alternate systematic Name
(NM_001110792.1:)		 c.756C>G
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296559G>C
Mutation type Silent
Domain TRD
Pathogenicity Silent polymorphism
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection SSCP
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Unaffected mother is a carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Not Rett synd.-autism only
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.720C>G p.Thr240Thr Female Unaffected mother is a carrier Not Rett synd. 2395 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.720C>G p.Thr240Thr Female Relative of proband Not Rett synd. 2396 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