Proband information
Proband id | 3986 |
---|---|
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 | NK |
Carrier | |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Male |
Sporadic/Familial | not known |
Phenotype-class | Not Rett synd.-non-Rett syndrome control |
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 |