Variant information


Systematic Name
(NM_004992.3:)
c.1163_1188del26
Protein name
(NP_004983)
p.Pro388fs
Alternate systematic Name
(NM_001110792.1:)
c.1199_1224del26
Alternate Protein name
(NP_001104262)
p.(Pro400Argfs*8)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296091_153296116del26
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_1188del26 p.Pro388fs Female Rett syndrome-Classical 946 MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719 View details
2 c.1163_1188del26 p.Pro388fs Unknown Rett syndrome-Forme fruste 918 ::: View details
3 c.1163_1188del26 p.Pro388fs Female Rett syndrome-Not certain 1119 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 View details
4 c.1163_1188del26 p.Pro388fs Female Rett syndrome-Not certain 1258 Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485 View details
5 c.1163_1188del26 p.Pro388fs Female Rett syndrome-Classical 1478 Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512 View details
6 c.1163_1188del26 p.Pro388fs Female Rett syndrome-classical 1940 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977 View details
7 c.1163_1188del26 p.Pro388fs Female Rett syndrome-not certain 3062 Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883 View details
8 c.1163_1188del26 p.Pro388fs Female Rett syndrome-not certain 3317 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
9 c.1163_1188del26 p.Pro388fs Female Rett syndrome-forme fruste 3379 MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756 View details
10 c.1163_1188del26 p.Pro388fs Female Not Known 4416 :Das, S., Dempsey, M. U. Chicago:: View details
11 c.1163_1188del26 p.Pro388fs Female Rett syndrome-classical 6646 ::: View details