Proband information


Proband id 4092
Systematic Name
(NM_004992.3:)		 c.1138G>A
Protein name
(NP_004983)		 p.Val380Met
Alternate systematic Name
(NM_001110792.1:)		 c.1174G>A
Alternate Protein name
(NP_001104262)		 p.(Val392Met)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296141C>T
Mutation type missense
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
Detection DHPLC
Extent 3 exons
Source of DNA not known
Carrier N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Not Rett synd.-mental retardation
Reference Methyl-CpG binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation:Parmeggiani, A., Tedde, M.R., Arbizzani, A., Posar, A., Scaduto, M.C., Santucci, M., Sangiorgi, S.:Journal of Child Neurology: 19189931

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1138G>A p.Val380Met Female Not Rett synd. 4092 Methyl-CpG binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation:Parmeggiani, A., Tedde, M.R., Arbizzani, A., Posar, A., Scaduto, M.C., Santucci, M., Sangiorgi, S.:Journal of Child Neurology: 19189931