Proband information
Proband id | 4048 |
---|---|
Systematic Name (NM_004992.3:) |
c.*98dupA |
Protein name (NP_004983) |
3'UTR variation |
Alternate systematic Name (NM_001110792.1:) |
c.*98dupA |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295720dupT |
Mutation type | 3'UTR variation |
Domain | 3'UTR |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | 100 chromosomes tested and not found in 100 chromosomes |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Male |
Sporadic/Familial | familial |
Phenotype-class | Not Rett synd.-unaffected family member |
Reference | MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.*98dupA | 3'UTR variation | Female | Unaffected father has variation | Rett syndrome-Not certain | 1913 | ::: |
2 | c.*98dupA | 3'UTR variation | Male | Relative of proband | Not Rett synd. | 1914 | ::: |
3 | c.*98dupA | 3'UTR variation | Female | Variation found in mother | Not Known | 2118 | :Cardiff, UK:: |
4 | c.*98dupA | 3'UTR variation | Female | Relative of proband | Not Rett synd. | 2119 | :Cardiff, UK:: |
5 | c.*98dupA | 3'UTR variation | Female | Variation found in mother | Not Known | 2120 | :Cardiff, UK:: |
6 | c.*98dupA | 3'UTR variation | Female | Relative of proband | Not Rett synd. | 2121 | :Cardiff, UK:: |
7 | c.*98dupA | 3'UTR variation | Male | Not Rett synd. | 2370 | MECP2 Structural and 3'-UTR Variants in Schizophrenia, Autism and Other Psychiatric Diseases: A Possible Association With Autism:Akane Shibayama, Edwin H. Cook Jr., Jinong Feng, Cecile Glanzmann, Jin Yan, Nick Craddock, Ian R. Jones, David Goldman, Leonard L. Heston, and Steve S. Sommer:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 15211631 | |
8 | c.*98dupA | 3'UTR variation | Female | Patient was adopted | Not Rett synd. | 2527 | Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation:Tejada M-I, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá M:Clinical Genetics: 16879196 |
9 | c.*98dupA | 3'UTR variation | Female | Father has variation | Not Rett synd. | 2528 | Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation:Tejada M-I, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá M:Clinical Genetics: 16879196 |
10 | c.*98dupA | 3'UTR variation | Female | healthy father | Rett syndrome-classical | 3049 | MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033 |
11 | c.*98dupA | 3'UTR variation | Female | in unaffected | Not Rett synd. | 3859 | Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation:Santos, M., Yan, J., Temudo, T., Oliveira, G., Vieira, J.P., Fen, J., Sommer, S., Maciel, P.:Disease Markers: 18688080 |
12 | c.*98dupA | 3'UTR variation | Male | in daughter with autism and mental retardation | Not Rett synd. | 4043 | Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation:Santos, M., Yan, J., Temudo, T., Oliveira, G., Vieira, J.P., Fen, J., Sommer, S., Maciel, P.:Disease Markers: 18688080 |
13 | c.*98dupA | 3'UTR variation | Male | Not Rett synd. | 4048 | MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033 | |
14 | c.*98dupA | 3'UTR variation | Female | Not Rett synd. | 4049 | MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033 | |
15 | c.*98dupA | 3'UTR variation | Female | Not Rett synd. | 4408 | :Khajuria, R.:: | |
16 | c.*98dupA | 3'UTR variation | Female | Not Rett synd. | 4409 | :Khajuria, R.:: | |
17 | c.*98dupA | 3'UTR variation | Female | Rett syndrome-not certain | 5228 | 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 | |
18 | c.*98dupA | 3'UTR variation | Female | Rett syndrome-not certain | 5229 | 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 | |
19 | c.*98dupA | 3'UTR variation | Female | Not Rett synd. | 5230 | 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 | |
20 | c.*98dupA | 3'UTR variation | Female | Not Rett synd. | 5231 | 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 | |
21 | c.*98dupA | 3'UTR variation | Female | Not Rett synd. | 5232 | 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 | |
22 | c.*98dupA | 3'UTR variation | Female | Rett syndrome-classical | 6611 | ::: | |
23 | c.*98dupA | 3'UTR variation | Female | in daughter with classic RTT | Not Rett synd. | 6347 | ::: |