Variant information


Systematic Name
(NM_004992.3:)		 AY523575.1:g.1029dupC
Protein name
(NP_004983)		 5'UTR variation
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
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
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