RPS19
Gene name: ribosomal protein S19OMIM ID: 603474
Chromosome location: 19q13.2
Mutations
| Disease/Phenotype | Diamond-Blackfan anemia |
|---|---|
| Reference transcript | NM_001022.3 |
| DNA Change | c.166C>T |
| A.A. Change | p.Arg56Stop |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | Proust A, Da Costa L, Rince P, Landois A, Tamary H, Zaizov R, Tchernia G, Delaunay J; SHIP Working Group on DBA.Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. Hematol J. 2003;4(2):132-6. |