Variant information


Systematic Name c.*8503dupC
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 exons1-4, 3'UTR
Evidence of Pathogenicity 96 chromosomes tested and not found in 94 chromosomes
Carrier status checked
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial not known
Phenotype-class Not Rett synd.-non-Rett syndrome control
Reference MECP2 coding sequence and 3'UTR variation in 182 unrelated autistic patients:Coutinho, A.M., Oliveira, G., Katz, C., Feng, J., Yan, J., Yang, C., Marques, C., Ataíde, A., Miguel, T.S., Borges, L., Almeida, J., Correia,C., Currais, A., Bento, C., Mota-Vieria, L., Temudo, T., Santos, M., Maciel, P., Sommer, S.S., Vicente, A.M.:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics: 17427193

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.*8503dupC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Unknown Not Rett synd. 4031 MECP2 coding sequence and 3'UTR variation in 182 unrelated autistic patients:Coutinho, A.M., Oliveira, G., Katz, C., Feng, J., Yan, J., Yang, C., Marques, C., Ataíde, A., Miguel, T.S., Borges, L., Almeida, J., Correia,C., Currais, A., Bento, C., Mota-Vieria, L., Temudo, T., Santos, M., Maciel, P., Sommer, S.S., Vicente, A.M.:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics: 17427193
2 c.*8503dupC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Unknown Not Rett synd. 4032 MECP2 coding sequence and 3'UTR variation in 182 unrelated autistic patients:Coutinho, A.M., Oliveira, G., Katz, C., Feng, J., Yan, J., Yang, C., Marques, C., Ataíde, A., Miguel, T.S., Borges, L., Almeida, J., Correia,C., Currais, A., Bento, C., Mota-Vieria, L., Temudo, T., Santos, M., Maciel, P., Sommer, S.S., Vicente, A.M.:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics: 17427193