RPL15 Chromosome 3

Ribosomal protein L15
13 variants 13 Health Risk

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What This Gene Does
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L15E family of ribosomal proteins and a component of the 60S subunit. This gene shares sequence similarity with the yeast ribosomal protein YL10 gene. Elevated expression of this gene has been observed in esophageal tumors and gastric cancer tissues, and deletion of this gene has been observed in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Mar 2017]
Gene Info
Gene Group
L ribosomal proteins
Locus Type
gene with protein product
Location
3p24.2
Ensembl
ENSG00000174748
Associated Conditions (3)
Diamond-Blackfan anemia 12
RPL15-related disorder
Cervical cancer
Key Variants
All Variants (13)
RSID Category Clinical Significance Conditions
RS113086273 Health Risk Conflicting classifications of pathogenicity
RS369956511 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 12, RPL15-related disorder, Cervical cancer
RS534301057 Health Risk Conflicting classifications of pathogenicity
RS764132899 Health Risk Conflicting classifications of pathogenicity
RS1704930969 Health Risk Likely pathogenic Diamond-Blackfan anemia 12, Diamond-Blackfan anemia 12
RS2125253315 Health Risk Pathogenic
RS2471214224 Health Risk Pathogenic Diamond-Blackfan anemia 12, Diamond-Blackfan anemia 12
RS2471214687 Health Risk Pathogenic Diamond-Blackfan anemia 12, Diamond-Blackfan anemia 12
RS2471215139 Health Risk Pathogenic Diamond-Blackfan anemia 12, Diamond-Blackfan anemia 12
RS2471215565 Health Risk Pathogenic
RS2471221205 Health Risk Pathogenic Diamond-Blackfan anemia 12, RPL15-related disorder, Diamond-Blackfan anemia 12
RS370700905 Health Risk Pathogenic Diamond-Blackfan anemia 12, Diamond-Blackfan anemia 12
RS886041445 Health Risk Pathogenic
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