Variant information
Systematic Name (NM_004992.3:) |
c.710delG |
---|---|
Protein name (NP_004983) |
p.Gly237fs |
Alternate systematic Name (NM_001110792.1:) |
c.746delG |
Alternate Protein name (NP_001104262) |
p.(Gly249Valfs*11) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296569delC |
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.710delG | p.Gly237fs | Female | Rett syndrome-Not certain | 1110 | 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 |
2 | c.710delG | p.Gly237fs | Unknown | Rett syndrome-Not certain | 1358 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
3 | c.710delG | p.Gly237fs | Unknown | Rett syndrome-Not certain | 1359 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
4 | c.710delG | p.Gly237fs | Unknown | Rett syndrome-Not certain | 1360 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
5 | c.710delG | p.Gly237fs | Female | Rett syndrome-Not certain | 1598 | :Bunyan, D.:: | View details |
6 | c.710delG | p.Gly237fs | Female | Not Known | 1734 | :Friez, Michael:: | View details |
7 | c.710delG | p.Gly237fs | Female | Rett syndrome-Not certain | 1871 | :Bunyan, D.:: | View details |
8 | c.710delG | p.Gly237fs | Female | Rett syndrome-Classical | 2093 | :Cardiff, UK:: | View details |
9 | c.710delG | p.Gly237fs | Female | Rett syndrome-not certain | 3597 | 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 |
10 | c.710delG | p.Gly237fs | Female | Rett syndrome-not certain | 4070 | Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 | View details |
11 | c.710delG | p.Gly237fs | Female | Rett syndrome-classical | 4182 | MECP2 mutation in one of Rett's original patients:Fleilinger, M., Berndt, A., Haas, O.A.:Journal of Medicat Genetics: 19724012 | View details |
12 | c.710delG | p.Gly237fs | Female | Rett syndrome-not certain | 4706 | 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 | View details |
13 | c.710delG | p.Gly237fs | Female | Rett syndrome-classical | 6632 | ::: | View details |