Variant information
Systematic Name (NM_004992.3:) |
c.383A>C |
---|---|
Protein name (NP_004983) |
p.Gln128Pro |
Alternate systematic Name (NM_001110792.1:) |
c.419A>C |
Alternate Protein name (NP_001104262) |
p.(Gln140Pro) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296896T>G |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.383A>C | p.Gln128Pro | Female | Rett syndrome-late regression | 2867 | Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523 | View details |