Variant information
Systematic Name (NM_004992.3:) |
c.245A>G |
---|---|
Protein name (NP_004983) |
p.Lys82Arg |
Alternate systematic Name (NM_001110792.1:) |
c.281A>G |
Alternate Protein name (NP_001104262) |
p.(Lys94Arg) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297790T>C |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.245A>G | p.Lys82Arg | Male | Not Rett synd. | 2673 | 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 |