Variant: rs104894717 

    present in Gene: RPS19
    present in Chromosome: 19
    Position on Chromosome: 41860817
    Alleles of this Variant: G/A;T

rs104894717 in RPS19 gene and Diamond-Blackfan Anemia 1 PMID 12750732 2003 Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene.

PMID 17517689 2007 Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.

PMID 11112378 2000 Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.

PMID 18412286 2008 RPS19 mutations in patients with Diamond-Blackfan anemia.

PMID 12586610 2003 Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology.

PMID 10590074 1999 Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.

PMID 9988267 1999 The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.

PMID 15384984 2004 RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.