Proband information
Proband id | 5220 |
---|---|
Systematic Name (NM_004992.3:) |
c.1234G>A |
Protein name (NP_004983) |
p.Val412Ile |
Alternate systematic Name (NM_001110792.1:) |
c.1270G>A |
Alternate Protein name (NP_001104262) |
p.(Val424Ile) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296045C>T |
Mutation type | missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | 1380 chromosomes tested and not found in 1378 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 | Unknown |
Sporadic/Familial | sporadic |
Phenotype-class | Not Rett synd.-normal control |
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.1234G>A | p.Val412Ile | Female | Rett syndrome-Not certain | 1143 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | |
2 | c.1234G>A | p.Val412Ile | Male | Mother has variation | Not Known | 2147 | :Cardiff, UK:: |
3 | c.1234G>A | p.Val412Ile | Female | Relative of proband | Not Rett synd. | 2148 | :Cardiff, UK:: |
4 | c.1234G>A | p.Val412Ile | Unknown | Not Rett synd. | 5219 | 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 | |
5 | c.1234G>A | p.Val412Ile | Unknown | Not Rett synd. | 5220 | 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 |