Variant information
Systematic Name (NM_004992.3:) |
c.1164_1208del45 |
---|---|
Protein name (NP_004983) |
p.Pro389_Pro403del |
Alternate systematic Name (NM_001110792.1:) |
c.1200_1244del45 |
Alternate Protein name (NP_001104262) |
p.(Pro401_Pro415del) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296071_153296115del45 |
Mutation type | in-frame insertion or deletion |
Domain | C-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1164_1208del45 | p.Pro389_Pro403del | Unknown | Rett syndrome-Not certain | 1361 | 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 |
2 | c.1164_1208del45 | p.Pro389_Pro403del | Female | Rett syndrome-congenital onset | 2883 | 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 |