Variant information
Systematic Name (NM_004992.3:) |
c.690A>C |
---|---|
Protein name (NP_004983) |
p.Pro230Pro |
Alternate systematic Name (NM_001110792.1:) |
c.726A>C |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296589T>G |
Mutation type | Silent |
Domain | TRD |
Pathogenicity | Silent polymorphism |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.690A>C | p.Pro230Pro | Female | Not Known | 2128 | :Cardiff, UK:: | View details |
2 | c.690A>C | p.Pro230Pro | Male | Not Rett synd. | 2129 | :Cardiff, UK:: | View details |