Variant information


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

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.904C>G p.Pro302Ala Female 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 View details
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 View details
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 View details
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 View details