No: |
Systematic Name |
Protein name |
Mutation type |
Domain |
Pathogenicity |
Gender |
Phenotype |
Proband id |
References |
1 |
AY523575.1:g.1029dupC |
5'UTR variation |
5'UTR variation |
5'UTR |
Polymorphism not causing disease |
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 |
2 |
AY523575.1:g.1029dupC |
5'UTR variation |
5'UTR variation |
5'UTR |
Polymorphism not causing disease |
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 |
3 |
AY523575.1:g.1029dupC |
5'UTR variation |
5'UTR variation |
5'UTR |
Polymorphism not causing disease |
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 |
4 |
AY523575.1:g.1029dupC |
5'UTR variation |
5'UTR variation |
5'UTR |
Polymorphism not causing disease |
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 |
5 |
AY523575.1:g.1029dupC |
5'UTR variation |
5'UTR variation |
5'UTR |
Polymorphism not causing disease |
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 |
6 |
AY523575.1:g.1029dupC |
5'UTR variation |
5'UTR variation |
5'UTR |
Polymorphism not causing disease |
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 |
7 |
AY523575.1:g.1029dupC |
5'UTR variation |
5'UTR variation |
5'UTR |
Polymorphism not causing disease |
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 |