Proband information
Proband id | 5133 |
---|---|
Systematic Name (NM_004992.3:) |
c.962_1267delinsG |
Protein name (NP_004983) |
p.Lys321Serfs*13 |
Alternate systematic Name (NM_001110792.1:) |
c.998_1303delinsG |
Alternate Protein name (NP_001104262) |
p.(Lys333Serfs*13) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296012_153296317delinsC |
Mutation type | frameshift combined insertion and deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | 1380 chromosomes tested and not found in 1380 chromosomes |
Detection | CSGE |
Extent | exons 3-4 |
Source of DNA | not stated |
Carrier | Y |
Carrier result | de novo |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Not Rett synd.-Rett-like |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.962_1267delinsG | p.Lys321Serfs*13 | Female | de novo | Not Rett synd. | 5133 | 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 |