RPS26 Chromosome 12
Ribosomal protein S26
Upload your DNA to see your personal genotypes for variants in RPS26.
What This Gene Does
This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. Mutations in this gene are found in Diamond-Blackfan anemia 10. There are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
S ribosomal proteins
Locus Type
gene with protein product
Location
12q13.2
Ensembl
ENSG00000197728
Associated Conditions (6)
Diamond-Blackfan anemia 10
Diamond-Blackfan anemia
Anemia
Pure red-cell aplasia
Ovarian serous cystadenocarcinoma
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Key Variants
RS2136753773
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 10, Diamond-Blackfan anemia, Diamond-Blackfan anemia 10
Health Risk
RS2540724191
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10
Health Risk
RS760255764
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 10, Diamond-Blackfan anemia, Diamond-Blackfan anemia 10
Health Risk
RS771196681
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10
Health Risk
RS1593023809
Likely pathogenic
Anemia, Pure red-cell aplasia, Anemia
Health Risk
RS1895894261
Likely pathogenic
Diamond-Blackfan anemia 10, Diamond-Blackfan anemia, Diamond-Blackfan anemia 10
Health Risk
RS2136753495
Likely pathogenic
Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10
Health Risk
RS2540722911
Likely pathogenic
Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10
Health Risk
RS2540723571
Likely pathogenic
Diamond-Blackfan anemia, Diamond-Blackfan anemia
Health Risk
RS2540723664
Likely pathogenic
Diamond-Blackfan anemia, Diamond-Blackfan anemia
Health Risk
RS2540724145
Likely pathogenic
Diamond-Blackfan anemia, Diamond-Blackfan anemia
Health Risk
RS140419130
Pathogenic
Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2136753773 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia, Diamond-Blackfan anemia 10 |
| RS2540724191 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10 |
| RS760255764 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia, Diamond-Blackfan anemia 10 |
| RS771196681 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10 |
| RS1593023809 | Health Risk | Likely pathogenic | Anemia, Pure red-cell aplasia, Anemia |
| RS1895894261 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia, Diamond-Blackfan anemia 10 |
| RS2136753495 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10 |
| RS2540722911 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10 |
| RS2540723571 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2540723664 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2540724145 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS140419130 | Health Risk | Pathogenic | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10 |
| RS143951267 | Health Risk | Pathogenic | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia, Ovarian serous cystadenocarcinoma |
| RS148942765 | Health Risk | Pathogenic | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 15 with mandibulofacial dysostosis, Diamond-Blackfan anemia |
| RS150229551 | Health Risk | Pathogenic | — |
| RS1555208596 | Health Risk | Pathogenic | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10 |
| RS1895903499 | Health Risk | Pathogenic | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10 |
| RS1895918140 | Health Risk | Pathogenic | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10 |
| RS2136753785 | Health Risk | Pathogenic | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia, Diamond-Blackfan anemia 10 |
| RS2540722756 | Health Risk | Pathogenic | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10 |
| RS2540722766 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2540722839 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS267607023 | Health Risk | Pathogenic | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10 |
| RS786200892 | Health Risk | Pathogenic | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10 |
| RS786203998 | Health Risk | Pathogenic | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 15 with mandibulofacial dysostosis, Diamond-Blackfan anemia 10 |
| RS148622862 | Health Risk | Pathogenic/Likely pathogenic | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia, Diamond-Blackfan anemia 10 |
| RS2136753850 | Health Risk | Pathogenic/Likely pathogenic | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia, Diamond-Blackfan anemia 10 |
| RS797045919 | Health Risk | Pathogenic/Likely pathogenic | Diamond-Blackfan anemia 10, Diamond-Blackfan anemia, Diamond-Blackfan anemia 10 |