Proband information


Proband id 2914
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
Evidence of Pathogenicity 219 chromosomes tested and not found in 219 chromosomes
Detection direct
Extent exon 1
Source of DNA not known
Carrier
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-atypical
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
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
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
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
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
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
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
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