Proband information
Proband id | 4099 |
---|---|
Systematic Name (NM_004992.3:) |
c.1133C>G |
Protein name (NP_004983) |
p.Ala378Gly |
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 | Unknown |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-classical |
Reference | Mutation analysis in Rett syndrome:Milunsky, J.M., Lebo, R.V., Ikuta, T., Maher, T.A., Haverty, C.E., Milunsky, A.:Genetic Testing: 11960578 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
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 | |
2 | c.1133C>G | Female | mother - heterozygous, father - negative | 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 |