Variant information
Systematic Name (NM_004992.3:) |
c.881G>C |
---|---|
Protein name (NP_004983) |
p.Arg294Pro |
Alternate systematic Name (NM_001110792.1:) |
c.917G>C |
Alternate Protein name (NP_001104262) |
p.(Arg306Pro) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296398C>G |
Mutation type | Missense |
Domain | TRD |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.881G>C | p.Arg294Pro | Female | Rett syndrome-Not certain | 1903 | ::: | View details |
2 | c.881G>C | p.Arg294Pro | Male | Not Rett synd. | 1904 | ::: | View details |