Variant information
Systematic Name (NM_004992.3:) |
c.1163_1197del35 |
---|---|
Protein name (NP_004983) |
p.Pro388fs |
Alternate systematic Name (NM_001110792.1:) |
c.1199_1233del35 |
Alternate Protein name (NP_001104262) |
p.(Pro400Hisfs*5) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296082_153296116del35 |
Mutation type | Frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1163_1197del35 | p.Pro388fs | Female | Rett syndrome-Not certain | 126 | 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.1163_1197del35 | p.Pro388fs | Female | Rett syndrome-Classical | 367 | ::: | View details |
3 | c.1163_1197del35 | p.Pro388fs | Female | Rett syndrome-not certain | 3311 | 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 |
4 | c.1163_1197del35 | p.Pro388fs | Female | Rett syndrome-atypical | 3747 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
5 | c.1163_1197del35 | p.Pro388fs | Female | Rett syndrome-not certain | 4712 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 | View details |