RPS7 Chromosome 2
Ribosomal protein S7
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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 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
S ribosomal proteins
Locus Type
gene with protein product
Location
2p25.3
Ensembl
ENSG00000171863
Associated Conditions (2)
Diamond-Blackfan anemia 8
Diamond-Blackfan anemia
Key Variants
RS1392470365
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
Health Risk
RS140914434
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 8, Diamond-Blackfan anemia, Diamond-Blackfan anemia 8
Health Risk
RS533287773
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
Health Risk
RS746686516
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
Health Risk
RS758369264
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
Health Risk
RS773617808
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 8, Diamond-Blackfan anemia, Diamond-Blackfan anemia 8
Health Risk
RS1572360944
Likely pathogenic
Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
Health Risk
RS1661257691
Likely pathogenic
Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
Health Risk
RS2528177027
Likely pathogenic
Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
Health Risk
RS1057519624
Pathogenic
Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
Health Risk
RS1064796859
Pathogenic
Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
Health Risk
RS2528176273
Pathogenic
Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1392470365 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8 |
| RS140914434 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 8, Diamond-Blackfan anemia, Diamond-Blackfan anemia 8 |
| RS533287773 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8 |
| RS746686516 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8 |
| RS758369264 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8 |
| RS773617808 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 8, Diamond-Blackfan anemia, Diamond-Blackfan anemia 8 |
| RS1572360944 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8 |
| RS1661257691 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8 |
| RS2528177027 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8 |
| RS1057519624 | Health Risk | Pathogenic | Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8 |
| RS1064796859 | Health Risk | Pathogenic | Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8 |
| RS2528176273 | Health Risk | Pathogenic | Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8 |
| RS2528177029 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS397507554 | Health Risk | Pathogenic | Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8 |