Variant information
Systematic Name (NM_004992.3:) |
c.1151_1191del41 |
---|---|
Protein name (NP_004983) |
p.Pro384fs |
Alternate systematic Name (NM_001110792.1:) |
c.1187_1227del41 |
Alternate Protein name (NP_001104262) |
p.(Pro396Argfs*7) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296088_153296128del41 |
Mutation type | frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1151_1191del41 | p.Pro384fs | Female | Rett syndrome-preserved speech | 2886 | 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 |