Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

RPS19

Gene name: ribosomal protein S19
OMIM ID: 603474
Chromosome location: 19q13.2

Mutations

Disease/PhenotypeDiamond-Blackfan anemia
Reference transcriptNM_001022.3
DNA Changec.166C>T
A.A. Changep.Arg56Stop
Exon/Intronexon 3
Mutation Typesubstitution
ReferenceProust 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.