Variant information
Systematic Name (NM_004992.3:) |
c.679C>G |
---|---|
Protein name (NP_004983) |
p.Gln227Glu |
Alternate systematic Name (NM_001110792.1:) |
c.715C>G |
Alternate Protein name (NP_001104262) |
p.(Gln239Glu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296600G>C |
Mutation type | missense |
Domain | TRD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.679C>G | p.Gln227Glu | Female | Not Rett synd. | 2660 | Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation:Lesca, G., Bernard, V., Bozon, M., Touraine, R., Gérard, D., Edery, P., Calender, A.:European Journal of Medical Genetics: 17383248 | View details |