Variant information
Systematic Name (NM_004992.3:) |
c.474G>A |
---|---|
Protein name (NP_004983) |
p.Thr158Thr |
Alternate systematic Name (NM_001110792.1:) |
c.510G>A |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296805C>T |
Mutation type | Silent |
Domain | MBD |
Pathogenicity | Silent polymorphism |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.474G>A | p.Thr158Thr | Female | Rett syndrome-Not certain | 15 | :Bunyan, D.:: | View details |
2 | c.474G>A | p.Thr158Thr | Female | Not Known | 2160 | :Cardiff, UK:: | View details |
3 | c.474G>A | p.Thr158Thr | Male | Not Rett synd. | 2161 | :Cardiff, UK:: | View details |