Proband information
Proband id | 4712 |
---|---|
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 |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | |
Carrier result | |
Other mutations | |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-not certain |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1163_1197del35 | p.Pro388fs | Female | Variation not found in parents | 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 |
2 | c.1163_1197del35 | p.Pro388fs | Female | Mother is not carrier, Father is not carrier | Rett syndrome-Classical | 367 | ::: |
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 | |
4 | c.1163_1197del35 | p.Pro388fs | Female | de novo | 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 |
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 |