Variant: rs143951267 

    present in Gene: LOC105369780;RPS26
    present in Chromosome: 12
    Position on Chromosome: 56042167
    Alleles of this Variant: A/C;G;T

rs143951267 in LOC105369780;RPS26 gene and Diamond-Blackfan Anemia 10 PMID 24942156 2014 Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.

PMID 20116044 2010 Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

PMID 26136524 2015 Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.