Variant information


Systematic Name c.*98dupA
Protein name 3'UTR variation
Mutation type 3'UTR variation
Domain 3'UTR
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA Blood
Detection direct
Extent Exons 2-4
Evidence of Pathogenicity
Carrier status checked Yes
Carrier result Unaffected father has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Not certain
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Female Rett syndrome-Not certain 1913 :::
2 c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Male Not Rett synd. 1914 :::
3 c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Female Not Known 2118 :Cardiff, UK::
4 c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Female Not Rett synd. 2119 :Cardiff, UK::
5 c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Female Not Known 2120 :Cardiff, UK::
6 c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Female Not Rett synd. 2121 :Cardiff, UK::
7 c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease 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 3'UTR variation 3'UTR Polymorphism not causing disease Female 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 3'UTR variation 3'UTR Polymorphism not causing disease Female 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 3'UTR variation 3'UTR Polymorphism not causing disease Female 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 3'UTR variation 3'UTR Polymorphism not causing disease Female 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 3'UTR variation 3'UTR Polymorphism not causing disease Male 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 3'UTR variation 3'UTR Polymorphism not causing disease 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 3'UTR variation 3'UTR Polymorphism not causing disease 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 3'UTR variation 3'UTR Polymorphism not causing disease Female Not Rett synd. 4408 :Khajuria, R.::
16 c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Female Not Rett synd. 4409 :Khajuria, R.::
17 c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease 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 3'UTR variation 3'UTR Polymorphism not causing disease 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 3'UTR variation 3'UTR Polymorphism not causing disease 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 3'UTR variation 3'UTR Polymorphism not causing disease 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 3'UTR variation 3'UTR Polymorphism not causing disease 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 3'UTR variation 3'UTR Polymorphism not causing disease Female Rett syndrome-classical 6611 :::
23 c.*98dupA 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Female Not Rett synd. 6347 :::