Variant information
Systematic Name (NM_004992.3:) |
c.617G>C |
---|---|
Protein name (NP_004983) |
p.Gly206Ala |
Alternate systematic Name (NM_001110792.1:) |
c.653G>C |
Alternate Protein name (NP_001104262) |
p.(Gly218Ala) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296662C>G |
Mutation type | missense |
Domain | inter-domain region |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.617G>C | p.Gly206Ala | Male | Not Rett synd. | 2666 | 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 |
2 | c.617G>C | p.(Gly206Ala) | Female | Not Known | 6900 | ::: | View details |