Variant information
Systematic Name (NM_004992.3:) |
c.393C>G |
---|---|
Protein name (NP_004983) |
p.Ala131Ala |
Alternate systematic Name (NM_001110792.1:) |
c.429C>G |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296886G>C |
Mutation type | silent |
Domain | MBD |
Pathogenicity | Silent polymorphism |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.393C>G | p.Ala131Ala | Female | Rett syndrome-Not certain | 1639 | :Bunyan, D.:: | View details |
2 | c.393C>G | p.Ala131Ala | Male | Not Rett synd. | 2496 | MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics:Tjitske Kleefstra, Helger G Yntema, Willy M Nillesen, Astrid R Oudakker, Reinier A Mullaart, Niels Geerdink, Hans van Bokhoven, Bert BA de Vries, Erik A Sistermans, Ben CJ Hamel:European Journal of Human Genetics: 14560307 | View details |
3 | c.393C>G | p.Ala131Ala | Unknown | Not Rett synd. | 2664 | 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 | View details |
4 | c.393C>G | p.Ala131Ala | Unknown | Not Rett synd. | 3995 | 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 | View details |