Variant information
Systematic Name (NM_004992.3:) |
c.1133C>G |
---|---|
Protein name (NP_004983) |
|
Alternate systematic Name (NM_001110792.1:) |
c.1169C>G |
Alternate Protein name (NP_001104262) |
p.(Ala390Gly) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296146G>C |
Mutation type | Missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1133C>G | p.Ala378Gly | Female | Rett syndrome-classical | 4099 | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 | View details |
2 | c.1133C>G | Female | Not Rett synd. | 6864 | MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561 | View details |