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