Proband information
Proband id | 5137 |
---|---|
Systematic Name (NM_004992.3:) |
c.184-?_1065+?del |
Protein name (NP_004983) |
p.? |
Alternate systematic Name (NM_001110792.1:) |
c.220_1101del |
Alternate Protein name (NP_001104262) |
p.(Ala74_Ser367del) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296214_153297851del |
Mutation type | exonic deletions |
Domain | MBD |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | MLPA |
Extent | exons 1-4 |
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 | Rett syndrome-classical |
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.184-?_1065+?del | p.? | Female | de novo | Rett syndrome-classical | 5137 | 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 |