Variant information
Systematic Name (NM_004992.3:) |
c.1372C>T |
---|---|
Protein name (NP_004983) |
p.Arg458Cys |
Alternate systematic Name (NM_001110792.1:) |
c.1408C>T |
Alternate Protein name (NP_001104262) |
p.(Arg470Cys) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295907G>A |
Mutation type | Missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1372C>T | p.Arg458Cys | Female | Not Known | 2143 | :Cardiff, UK:: | View details |
2 | c.1372C>T | p.Arg458Cys | Male | Not Rett synd. | 2144 | :Cardiff, UK:: | View details |