Variant information
Systematic Name (NM_004992.3:) |
AY523575.1:g.1029dupC |
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Protein name (NP_004983) |
5'UTR variation |
Alternate systematic Name (NM_001110792.1:) |
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Alternate Protein name (NP_001104262) |
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Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
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Mutation type | 5'UTR variation |
Domain | 5'UTR |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
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1 | AY523575.1:g.1029dupC | 5'UTR variation | Female | Rett syndrome-classcial | 2913 | Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls:Evans, J.C., Archer, H.L., Whatley, S.D., Kerr, A., Clarke, A., Butler, R.:European Journal of Human Genetics: 15367913 | View details |
2 | AY523575.1:g.1029dupC | 5'UTR variation | Female | Rett syndrome-atypical | 2914 | Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls:Evans, J.C., Archer, H.L., Whatley, S.D., Kerr, A., Clarke, A., Butler, R.:European Journal of Human Genetics: 15367913 | View details |
3 | AY523575.1:g.1029dupC | 5'UTR variation | Female | Rett syndrome-atypical | 2915 | Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls:Evans, J.C., Archer, H.L., Whatley, S.D., Kerr, A., Clarke, A., Butler, R.:European Journal of Human Genetics: 15367913 | View details |
4 | AY523575.1:g.1029dupC | 5'UTR variation | Female | Not Rett synd. | 3983 | Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls:Evans, J.C., Archer, H.L., Whatley, S.D., Kerr, A., Clarke, A., Butler, R.:European Journal of Human Genetics: 15367913 | View details |
5 | AY523575.1:g.1029dupC | 5'UTR variation | Male | Not Rett synd. | 3984 | Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls:Evans, J.C., Archer, H.L., Whatley, S.D., Kerr, A., Clarke, A., Butler, R.:European Journal of Human Genetics: 15367913 | View details |
6 | AY523575.1:g.1029dupC | 5'UTR variation | Male | Not Rett synd. | 3985 | Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls:Evans, J.C., Archer, H.L., Whatley, S.D., Kerr, A., Clarke, A., Butler, R.:European Journal of Human Genetics: 15367913 | View details |
7 | AY523575.1:g.1029dupC | 5'UTR variation | Male | Not Rett synd. | 3986 | Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls:Evans, J.C., Archer, H.L., Whatley, S.D., Kerr, A., Clarke, A., Butler, R.:European Journal of Human Genetics: 15367913 | View details |