Variant information
Systematic Name (NM_004992.3:) |
c.467A>G |
---|---|
Protein name (NP_004983) |
p.Asp156Gly |
Alternate systematic Name (NM_001110792.1:) |
c.503A>G |
Alternate Protein name (NP_001104262) |
p.(Asp168Gly) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296812T>C |
Mutation type | Missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.467A>G | p.Asp156Gly | Female | Rett syndrome-Not certain | 266 | MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679 | View details |
2 | c.467A>G | p.Asp156Gly | Unknown | Rett syndrome-Not certain | 1292 | 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 |