Variant information
Systematic Name (NM_004992.3:) |
c.[1233C>T(;)1460G>T] |
---|---|
Protein name (NP_004983) |
p.[Ser411Ser(;)*487Leuext*27] |
Alternate systematic Name (NM_001110792.1:) |
c.[1269C>T;1496G>T] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296046G>A;153295819C>A] |
Mutation type | silent, non-stop |
Domain | C-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[1233C>T(;)1460G>T] | p.[Ser411Ser(;)*487Leuext*27] | Female | Rett syndrome-Classical | 4288 | 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 |