Variant information
Systematic Name (NM_004992.3:) |
c.856_859delAAAG |
---|---|
Protein name (NP_004983) |
p.Lys286fs |
Alternate systematic Name (NM_001110792.1:) |
c.892_895delAAAG |
Alternate Protein name (NP_001104262) |
p.(Lys298Profs*2) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296420_153296423delCTTT |
Mutation type | frameshift insertion or deletion |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.856_859delAAAG | p.Lys286fs | Female | Rett syndrome-Not certain | 35 | 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 | View details |
2 | c.856_859delAAAG | p.Lys286fs | Female | Rett syndrome-Not certain | 1607 | :Bunyan, D.:: | View details |
3 | c.856_859delAAAG | p.Lys286fs | Female | Rett syndrome-Not certain | 1841 | :Bunyan, D.:: | View details |
4 | c.856_859delAAAG | p.Lys286fs | Female | Rett syndrome-Atypical | 2104 | :Cardiff, UK:: | View details |
5 | c.856_859delAAAG | p.Lys286fs | Female | Rett syndrome-Classical | 2501 | A case of Rett syndrome from Ukraine - clinical diagnosis confirmed by mutation analysis of the MECP2 gene:Bzduch V, Zahorakova D, Grechanina E, Zdibskaja EP, Goldfarb IG, Zeman J, Martasek P:Bratislava Medical Journal: 15633890 | View details |
6 | c.856_859delAAAG | p.Lys286fs | Female | Rett syndrome-Classical | 2610 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | View details |
7 | c.856_859delAAAG | p.Lys286fs | Female | Rett syndrome-not certain | 3279 | 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 |
8 | c.856_859delAAAG | p.Lys286fs | Female | Rett syndrome-not certain | 3355 | Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 | View details |
9 | c.856_859delAAAG | p.Lys286fs | Female | Rett syndrome-not certain | 3793 | Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome:Inui, K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S:Brain & Development: 11376998 | View details |
10 | c.856_859delAAAG | p.Lys286fs | Female | Rett syndrome-classical | 6630 | ::: | View details |