Variant information
Systematic Name (NM_004992.3:) |
c.[1123_1189del;1249_1270del] |
---|---|
Protein name (NP_004983) |
p.Ser375Argfs*12 |
Alternate systematic Name (NM_001110792.1:) |
c.[1159_1225del;1285_1306del] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296090_153296156del;153296009_153296030del] |
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.[1123_1189del;1249_1270del] | p.Ser375Argfs*12 | Female | Rett syndrome-atypical | 5134 | MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 | View details |