Proband information
Proband id | 5226 |
---|---|
Systematic Name (NM_004992.3:) |
c.*14G>A |
Protein name (NP_004983) |
3'UTR variation |
Alternate systematic Name (NM_001110792.1:) |
c.*14G>A |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295804C>T |
Mutation type | 3'UTR variation |
Domain | 3'UTR |
Pathogenicity | Unknown |
Evidence of Pathogenicity | 1380 chromosomes tested and not found in 1380 chromosomes |
Detection | CSGE |
Extent | exons 3-4 |
Source of DNA | not stated |
Carrier | N |
Carrier result | |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-not certain |
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.*14G>A | 3'UTR variation | Female | Rett syndrome-not certain | 5226 | 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 | |
2 | c.*14G>A | 3'UTR variation | Female | in daughter with forme fruste | Not Rett synd. | 6666 | ::: |
3 | c.*14G>A | 3'UTR variation | Female | mother has | Rett syndrome-forme fruste | 6665 | ::: |