Proband information


Proband id 120
Systematic Name
(NM_004992.3:)		 c.904C>G
Protein name
(NP_004983)		 p.Pro302Ala
Alternate systematic Name
(NM_001110792.1:)		 c.940C>G
Alternate Protein name
(NP_001104262)		 p.(Pro314Ala)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296375G>C
Mutation type Missense
Domain TRD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Variation not found in parents
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Preserved speech
Reference Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.904C>G p.Pro302Ala Female Variation not found in parents Rett syndrome-Preserved speech 120 Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718
2 c.904C>G p.Pro302Ala Female Rett syndrome-Classical 318 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
3 c.904C>G p.Pro302Ala Female Rett syndrome-not certain 3080 Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883
4 c.904C>G p.Pro302Ala Female Rett syndrome-not certain 3140 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305