RPS19, ribosomal protein S19, 6223

N. diseases: 256; N. variants: 17
Disease: Anemia, Diamond-Blackfan ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138938035
rs138938035
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
CUI: C1260899
Disease:
Anemia, Diamond-Blackfan 		0.010 GeneticVariation BEFREE Remarkably, the RPL5 c.482del frameshift mutation has never been reported before, whereas the RPS19 c.3G>T missense mutation, although previously described in a 2-month-old DBA patient without malformations and refractory to steroid therapy, was detected here in the mosaic state in different bodily tissues for the first time in DBA patients. 28376382 2017