Variant information


Systematic Name c.[*8500C>G];[*8503delC]
Protein name 3'UTR variation
Mutation type 3'UTR variation
Domain 3'UTR
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA blood
Detection SSCP
Extent 3' UTR
Number of chromosomes checked 218 chromosomes tested and not found in 218 chromosomes
Carrier status checked Yes
Carrier result unaffected father with c.*8500C>G and unaffected mother with c.*8503delC
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-mental retardation
Reference Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation:Santos, M., Yan, J., Temudo, T., Oliveira, G., Vieira, J.P., Fen, J., Sommer, S., Maciel, P.:Disease Markers: 18688080

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[*8500C>G];[*8503delC] 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Female Not Rett synd. 3861 Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation:Santos, M., Yan, J., Temudo, T., Oliveira, G., Vieira, J.P., Fen, J., Sommer, S., Maciel, P.:Disease Markers: 18688080