Variant information
Systematic Name (NM_004992.3:) |
c.400T>C |
---|---|
Protein name (NP_004983) |
p.Ser134Pro |
Alternate systematic Name (NM_001110792.1:) |
c.436T>C |
Alternate Protein name (NP_001104262) |
p.(Ser146Pro) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296879A>G |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.400T>C | p.Ser134Pro | Female | Rett syndrome-Classical | 4247 | Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 | View details |