Variant information


Systematic Name
(NM_004992.3:)
c.423C>G
Protein name
(NP_004983)
p.Tyr141*
Alternate systematic Name
(NM_001110792.1:)
c.459C>G
Alternate Protein name
(NP_001104262)
p.(Tyr153*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296856G>C
Mutation type Nonsense
Domain MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.423C>G p.Tyr141* Female Rett syndrome-Classical 330 Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091 View details
2 c.423C>G p.Tyr141* Unknown Rett syndrome-Classical 882 ::: View details
3 c.423C>G p.Tyr141* Unknown Rett syndrome-Classical 883 ::: View details
4 c.423C>G p.Tyr141* Female Rett syndrome-Not certain 1063 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
5 c.423C>G p.Tyr141* Female Not Rett synd. 1154 Angelman syndrome phenotype associated with mutations in MeCP2, a gene encoding a methyl CpG binding protein:Watson, Pamela, Black, Graeme, Ramsden, Simon, Barrow, Margaret, Super, Maurice, Kerr, Bronwyn, Clayton-Smith, Jill:Journal of Medical Genetics: 11283202 View details
6 c.423C>G p.Tyr141* Female Rett syndrome-Classical 1461 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, HultÚn, Maj:Journal of Molecular Medicine: 11269512 View details
7 c.423C>G p.Tyr141* Unknown Rett syndrome-classical 1521 Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741 View details
8 c.423C>G p.Tyr141* Female Rett syndrome-Preserved speech 2416 ::: View details
9 c.423C>G p.Tyr141* Female Rett syndrome-Classical 2579 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
10 c.423C>G p.Tyr141* Female Rett syndrome-not certain 3050 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
11 c.423C>G p.Tyr141* Female Rett syndrome-classical 3377 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
12 c.423C>G p.Tyr141* Female Rett syndrome-classical 3378 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
13 c.423C>G p.Tyr141* Female Rett syndrome-not certain 3539 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 View details
14 c.423C>G p.Tyr141* Female Rett syndrome-classical 3687 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
15 c.423C>G p.Tyr141* Female Rett syndrome-classical 6592 ::: View details
16 c.423C>G p.Tyr141* Female Rett syndrome-classical 6593 ::: View details