Variant information
Systematic Name (NM_004992.3:) |
c.[473C>T(;)1335G>A] |
---|---|
Protein name (NP_004983) |
p.[Thr158Met(;)Thr445Thr] |
Alternate systematic Name (NM_001110792.1:) |
c.[509C>T;1371G>A] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296806G>A;153295944C>T] |
Mutation type | missense, silent |
Domain | MBD, C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[473C>T(;)1335G>A] | p.[Thr158Met(;)Thr445Thr] | Female | Rett syndrome-Classical | 4243 | 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 |