Variant information


Systematic Name c.398G>A
Protein name p.Arg133His
Mutation type missense
Domain MBD
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection SSCP, direct
Extent exons 2-4
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Rett syndrome-not certain
Reference Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.398G>A p.Arg133His Missense MBD Unknown Female Rett syndrome-Not certain 29 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
2 c.398G>A p.Arg133His Missense MBD Unknown Female Rett syndrome-Atypical 433 :::
3 c.398G>A p.Arg133His Missense MBD Unknown Female Rett syndrome-Classical 2226 :Cardiff, UK::
4 c.398G>A p.Arg133His missense MBD Unknown Female Rett syndrome-not certain 3111 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
5 c.398G>A p.Arg133His missense MBD Unknown Female Rett syndrome-not certain 3432 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070
6 c.398G>A p.Arg133His missense MBD Unknown Female Rett syndrome-not certain 3536 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
7 c.398G>A p.Arg133His missense MBD Unknown Female Rett syndrome-not certain 3537 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
8 c.398G>A p.Arg133His missense MBD Unknown Female Rett syndrome-atypical 5112 :::