Variant information
Systematic Name (NM_004992.3:) |
c.673C>A |
---|---|
Protein name (NP_004983) |
p.Pro225Thr |
Alternate systematic Name (NM_001110792.1:) |
c.709C>A |
Alternate Protein name (NP_001104262) |
p.(Pro237Thr) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296606G>T |
Mutation type | missense |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.673C>A | p.Pro225Thr | Female | Not Known | 4474 | :Das, S., Dempsey, M. U. Chicago:: | View details |