Variant information
Systematic Name (NM_004992.3:) |
c.479C>G |
---|---|
Protein name (NP_004983) |
p.Thr160Ser |
Alternate systematic Name (NM_001110792.1:) |
c.515C>G |
Alternate Protein name (NP_001104262) |
p.(Thr172Ser) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296800G>C |
Mutation type | Missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.479C>G | p.Thr160Ser | Female | Not Known | 2058 | ::: | View details |
2 | c.479C>G | p.Thr160Ser | Male | Not Rett synd. | 4796 | A MECP2 missense mutation within the MBD domain in a Brazilian male with autistic disorder:Campos, M., Jr, Pestana, C.P., dos Santos, A.V., Ponchel, F., Churchman, S., Abdalla-Carvalho, C.B., dos Santos, J.M., dos Santos, F.L., Gikovate, C.G., Santos-Rebouças, C.B., Pimentel, M.M.G.:Brain & Development: 21600714 | View details |