RPS20 (ribosomal protein S20) - Rat Genome Database

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Gene: RPS20 (ribosomal protein S20) Homo sapiens
Analyze
Symbol: RPS20
Name: ribosomal protein S20
RGD ID: 736603
HGNC Page HGNC:10405
Description: Enables MDM2/MDM4 family protein binding activity and ubiquitin ligase inhibitor activity. A structural constituent of ribosome. Involved in positive regulation of signal transduction by p53 class mediator. Located in extracellular exosome and membrane. Part of cytosolic small ribosomal subunit.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 40S ribosomal protein S20; FLJ27451; MGC102930; S20; small ribosomal subunit protein uS10; uS10
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: RPS20P1   RPS20P10   RPS20P11   RPS20P12   RPS20P13   RPS20P14   RPS20P15   RPS20P16   RPS20P17   RPS20P18   RPS20P19   RPS20P2   RPS20P20   RPS20P21   RPS20P22   RPS20P23   RPS20P24   RPS20P25   RPS20P26   RPS20P27   RPS20P28   RPS20P29   RPS20P3   RPS20P30   RPS20P31   RPS20P32   RPS20P33   RPS20P34   RPS20P35   RPS20P4   RPS20P5   RPS20P6   RPS20P7   RPS20P8   RPS20P9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38856,067,254 - 56,074,506 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl856,067,254 - 56,074,510 (-)EnsemblGRCh38hg38GRCh38
GRCh37856,979,813 - 56,987,065 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36857,148,167 - 57,149,623 (-)NCBINCBI36Build 36hg18NCBI36
Build 34857,148,168 - 57,149,623NCBI
Celera852,972,573 - 52,978,977 (-)NCBICelera
Cytogenetic Map8q12.1NCBI
HuRef852,448,024 - 52,454,627 (-)NCBIHuRef
CHM1_1857,032,188 - 57,038,581 (-)NCBICHM1_1
T2T-CHM13v2.0856,444,256 - 56,451,508 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
2,6-dimethoxyphenol  (EXP)
2-amino-14,16-dimethyloctadecan-3-ol  (EXP)
3',5'-cyclic UMP  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
actinomycin D  (EXP)
alpha-Zearalanol  (ISO)
amino acid  (EXP,ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenic trichloride  (EXP)
arsenite(3-)  (EXP)
azoxystrobin  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
CGP 52608  (EXP)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
decabromodiphenyl ether  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furfural  (EXP)
genistein  (EXP)
glafenine  (ISO)
hydrogen sulfide  (ISO)
ivermectin  (EXP)
L-ethionine  (ISO)
L-methionine  (ISO)
methylparaben  (EXP)
miconazole  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
nitric oxide  (ISO)
Nutlin-3  (EXP)
okadaic acid  (ISO)
omeprazole  (ISO)
p-menthan-3-ol  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phorbol 13-acetate 12-myristate  (ISO)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
progesterone  (EXP)
pyrimidifen  (EXP)
pyrogallol  (ISO)
rotenone  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
sirolimus  (EXP)
sodium arsenite  (EXP,ISO)
sodium chloride  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
tolcapone  (ISO)
torin 1  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
tungsten  (ISO)
urethane  (ISO)
valproic acid  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal circulating creatine concentration  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the head  (IAGP)
Abnormality of the thenar eminence  (IAGP)
Abnormality of the upper limb  (IAGP)
Absent thumb  (IAGP)
Acute myeloid leukemia  (IAGP)
Adenocarcinoma of the colon  (IAGP)
Amaurosis fugax  (IAGP)
Anxiety  (IAGP)
Atrial septal defect  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Basal cell carcinoma  (IAGP)
Benign neoplasm of the central nervous system  (IAGP)
Cardiac diverticulum  (IAGP)
Cleft lip  (IAGP)
Cleft soft palate  (IAGP)
Coarctation of aorta  (IAGP)
Congenital hypoplastic anemia  (IAGP)
Constipation  (IAGP)
Depressed nasal bridge  (IAGP)
Depression  (IAGP)
Developmental cataract  (IAGP)
Developmental glaucoma  (IAGP)
Developmental regression  (IAGP)
Disturbed sensory perception  (IAGP)
Dysarthria  (IAGP)
Dysgraphia  (IAGP)
Dyskinesia  (IAGP)
Elevated red cell adenosine deaminase activity  (IAGP)
Epicanthus  (IAGP)
Erythroid hypoplasia  (IAGP)
Fatigue  (IAGP)
Flexion contracture  (IAGP)
Gait disturbance  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Glioblastoma multiforme  (IAGP)
Growth delay  (IAGP)
Hallucinations  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hepatocellular carcinoma  (IAGP)
High palate  (IAGP)
Horseshoe kidney  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Increased intracranial pressure  (IAGP)
Increased mean corpuscular volume  (IAGP)
Irritability  (IAGP)
Lethargy  (IAGP)
Leukopenia  (IAGP)
Low anterior hairline  (IAGP)
Low-set ears  (IAGP)
Macrocytic dyserythropoietic anemia  (IAGP)
Malabsorption  (IAGP)
Malignant genitourinary tract tumor  (IAGP)
Memory impairment  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microtia  (IAGP)
Migraine  (IAGP)
Myelodysplasia  (IAGP)
Nausea and vomiting  (IAGP)
Neoplasm of the breast  (IAGP)
Neoplasm of the colon  (IAGP)
Neoplasm of the pancreas  (IAGP)
Neoplasm of the rectum  (IAGP)
Neoplasm of the skeletal system  (IAGP)
Neoplasm of the thyroid gland  (IAGP)
Neuroblastoma  (IAGP)
Neurodevelopmental delay  (IAGP)
Neutropenia  (IAGP)
Nonimmune hydrops fetalis  (IAGP)
Normochromic anemia  (IAGP)
Osteosarcoma  (IAGP)
Ovarian neoplasm  (IAGP)
Pallor  (IAGP)
Pancreatic adenocarcinoma  (IAGP)
Paresthesia  (IAGP)
Partial duplication of thumb phalanx  (IAGP)
Persistence of hemoglobin F  (IAGP)
Pituitary adenoma  (IAGP)
Ptosis  (IAGP)
Pure red cell aplasia  (IAGP)
Radial artery aplasia  (IAGP)
Renal agenesis  (IAGP)
Renal neoplasm  (IAGP)
Reticulocytopenia  (IAGP)
Seizure  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Short thumb  (IAGP)
Small for gestational age  (IAGP)
Sprengel anomaly  (IAGP)
Stomach cancer  (IAGP)
Strabismus  (IAGP)
Thrombocytopenia  (IAGP)
Thrombocytosis  (IAGP)
Triphalangeal thumb  (IAGP)
Urinary tract neoplasm  (IAGP)
Uterine neoplasm  (IAGP)
Ventricular septal defect  (IAGP)
Visual field defect  (IAGP)
Visual impairment  (IAGP)
Webbed neck  (IAGP)
Weight loss  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Structures of the human and Drosophila 80S ribosome. Anger AM, etal., Nature. 2013 May 2;497(7447):80-5. doi: 10.1038/nature12104.
2. Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits. O'Donohue MF, etal., J Cell Biol. 2010 Sep 6;190(5):853-66. doi: 10.1083/jcb.201005117.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:6188845   PMID:7821789   PMID:8479924   PMID:8674114   PMID:8706699   PMID:8722009   PMID:9582194   PMID:11875025   PMID:12107412   PMID:12477932   PMID:12588972   PMID:15189156  
PMID:15231747   PMID:15489334   PMID:15494207   PMID:15883184   PMID:16196087   PMID:16712791   PMID:16968546   PMID:17220478   PMID:17361185   PMID:17373842   PMID:18029348   PMID:18274552  
PMID:18391951   PMID:18624398   PMID:18781797   PMID:19167051   PMID:19380743   PMID:19738201   PMID:19946888   PMID:20020773   PMID:20458337   PMID:20546612   PMID:20972266   PMID:21081503  
PMID:21139048   PMID:21145461   PMID:21182205   PMID:21280222   PMID:21319273   PMID:21832049   PMID:21853274   PMID:21873635   PMID:21890473   PMID:21906983   PMID:21963094   PMID:21987572  
PMID:21988832   PMID:22046132   PMID:22053931   PMID:22145905   PMID:22268729   PMID:22505724   PMID:22534017   PMID:22623428   PMID:22658674   PMID:22681889   PMID:22863883   PMID:22939629  
PMID:22990118   PMID:23000965   PMID:23151878   PMID:23184937   PMID:23246001   PMID:23376485   PMID:23443559   PMID:23874713   PMID:23979707   PMID:24244333   PMID:24583282   PMID:24725412  
PMID:24755837   PMID:24816145   PMID:24941021   PMID:24947832   PMID:24981860   PMID:25015289   PMID:25147182   PMID:25349213   PMID:25437307   PMID:25798074   PMID:25866880   PMID:25901680  
PMID:25963833   PMID:26170170   PMID:26209609   PMID:26217791   PMID:26344197   PMID:26485645   PMID:26496610   PMID:26506620   PMID:26527279   PMID:26549023   PMID:26561776   PMID:26693507  
PMID:26725010   PMID:26816005   PMID:26979993   PMID:27025967   PMID:27049334   PMID:27129302   PMID:27503909   PMID:27545878   PMID:27576135   PMID:27591049   PMID:27684187   PMID:27713038  
PMID:27976729   PMID:28024152   PMID:28065597   PMID:28065601   PMID:28132843   PMID:28302793   PMID:28514442   PMID:28515276   PMID:28524877   PMID:28581483   PMID:28927264   PMID:28977666  
PMID:28986522   PMID:29117863   PMID:29228324   PMID:29229926   PMID:29298432   PMID:29378950   PMID:29467282   PMID:29478914   PMID:29509190   PMID:29676528   PMID:29721183   PMID:29802200  
PMID:29844126   PMID:29845934   PMID:29859926   PMID:29955894   PMID:30021884   PMID:30061673   PMID:30209976   PMID:30258100   PMID:30344098   PMID:30425250   PMID:30455355   PMID:30459231  
PMID:30463901   PMID:30575818   PMID:30804502   PMID:30884312   PMID:30948266   PMID:30997501   PMID:31046837   PMID:31048545   PMID:31059266   PMID:31180492   PMID:31239290   PMID:31253590  
PMID:31324722   PMID:31363146   PMID:31409639   PMID:31586073   PMID:31623628   PMID:31732153   PMID:31980649   PMID:32041737   PMID:32129710   PMID:32238831   PMID:32424863   PMID:32457219  
PMID:32665550   PMID:32687490   PMID:32698014   PMID:32790018   PMID:32807901   PMID:32929329   PMID:33111431   PMID:33194618   PMID:33306668   PMID:33567341   PMID:33644029   PMID:33658012  
PMID:33729478   PMID:33916271   PMID:33961781   PMID:34039624   PMID:34077860   PMID:34079125   PMID:34185411   PMID:34316702   PMID:34349018   PMID:34373451   PMID:34537242   PMID:34650049  
PMID:34709727   PMID:34839354   PMID:34901782   PMID:35013218   PMID:35031058   PMID:35032548   PMID:35063084   PMID:35102251   PMID:35235311   PMID:35256949   PMID:35271311   PMID:35338135  
PMID:35384245   PMID:35446349   PMID:35509820   PMID:35546148   PMID:35563538   PMID:35605301   PMID:35676659   PMID:35819319   PMID:35831314   PMID:35850772   PMID:35944360   PMID:36042349  
PMID:36057605   PMID:36114006   PMID:36199071   PMID:36215168   PMID:36273042   PMID:36282215   PMID:36302773   PMID:36373674   PMID:36484407   PMID:36517590   PMID:36526897   PMID:36537216  
PMID:36543142   PMID:36574265   PMID:36652389   PMID:37039823   PMID:37059091   PMID:37071682   PMID:37211047   PMID:37249651   PMID:37314180   PMID:37314216   PMID:37317656   PMID:37326506  
PMID:37448957   PMID:37478010   PMID:37609425   PMID:37616343   PMID:37640791   PMID:37794589   PMID:37827155   PMID:37866880   PMID:38113892   PMID:38172120   PMID:38290548   PMID:38334954  
PMID:38366554   PMID:38697112   PMID:39066279   PMID:39238192   PMID:39358380   PMID:39522233  


Genomics

Comparative Map Data
RPS20
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38856,067,254 - 56,074,506 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl856,067,254 - 56,074,510 (-)EnsemblGRCh38hg38GRCh38
GRCh37856,979,813 - 56,987,065 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36857,148,167 - 57,149,623 (-)NCBINCBI36Build 36hg18NCBI36
Build 34857,148,168 - 57,149,623NCBI
Celera852,972,573 - 52,978,977 (-)NCBICelera
Cytogenetic Map8q12.1NCBI
HuRef852,448,024 - 52,454,627 (-)NCBIHuRef
CHM1_1857,032,188 - 57,038,581 (-)NCBICHM1_1
T2T-CHM13v2.0856,444,256 - 56,451,508 (-)NCBIT2T-CHM13v2.0
Rps20
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3943,831,334 - 3,835,600 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl43,831,334 - 3,835,665 (-)EnsemblGRCm39 Ensembl
GRCm3843,831,584 - 3,835,655 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl43,831,334 - 3,835,665 (-)EnsemblGRCm38mm10GRCm38
MGSCv3743,761,620 - 3,762,747 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3643,761,620 - 3,762,747 (-)NCBIMGSCv36mm8
Celera43,790,149 - 3,791,280 (-)NCBICelera
Cytogenetic Map4A1NCBI
cM Map42.14NCBI
Rps20
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8521,616,687 - 21,618,068 (-)NCBIGRCr8
mRatBN7.2516,819,095 - 16,820,476 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl322,430,259 - 22,430,740 (+)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl94,159,021 - 4,159,547 (-)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl5155,541,742 - 155,542,269 (+)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl516,819,304 - 16,820,475 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx519,060,230 - 19,061,611 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0520,658,718 - 20,660,099 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0520,410,210 - 20,411,591 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0516,706,052 - 16,707,214 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl516,706,082 - 16,706,909 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0521,486,034 - 21,487,196 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4517,119,797 - 17,120,959 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1517,119,812 - 17,120,942 (-)NCBI
Celera516,183,218 - 16,184,380 (-)NCBICelera
Cytogenetic Map5q12NCBI
Rps20
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545415,151,065 - 15,152,301 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545415,151,065 - 15,152,301 (-)NCBIChiLan1.0ChiLan1.0
RPS20
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2771,731,012 - 71,732,834 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1847,455,398 - 47,457,097 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0852,519,658 - 52,521,152 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1849,890,269 - 49,891,806 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl849,886,952 - 49,891,806 (-)Ensemblpanpan1.1panPan2
RPS20
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1297,488,481 - 7,489,850 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha297,801,137 - 7,802,503 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0297,562,721 - 7,564,084 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl297,402,178 - 7,564,085 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1297,576,107 - 7,577,470 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0297,708,970 - 7,710,336 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0297,985,835 - 7,987,201 (-)NCBIUU_Cfam_GSD_1.0
RPS20
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl475,762,209 - 75,769,955 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1475,762,209 - 75,763,449 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2482,679,936 - 82,681,176 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RPS20
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1852,108,532 - 52,109,956 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl852,108,568 - 52,110,016 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603989,689,679 - 89,691,170 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rps20
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248863,981,899 - 3,985,261 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248863,981,885 - 3,983,243 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RPS20
231 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q12.1(chr8:55423413-58836753)x1 copy number loss See cases [RCV000054240] Chr8:55423413..58836753 [GRCh38]
Chr8:56335973..59749312 [GRCh37]
Chr8:56498527..59911866 [NCBI36]
Chr8:8q12.1		 pathogenic
NM_001023.3(RPS20):c.191C>T (p.Thr64Ile) single nucleotide variant Malignant melanoma [RCV000068352] Chr8:56073259 [GRCh38]
Chr8:56985818 [GRCh37]
Chr8:57148372 [NCBI36]
Chr8:8q12.1		 not provided
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 copy number gain See cases [RCV000133720] Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2		 pathogenic
GRCh38/hg38 8q11.23-12.1(chr8:53996579-56163431)x1 copy number loss See cases [RCV000135764] Chr8:53996579..56163431 [GRCh38]
Chr8:54909139..57075990 [GRCh37]
Chr8:55071692..57238544 [NCBI36]
Chr8:8q11.23-12.1		 likely pathogenic
GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3 copy number gain See cases [RCV000137672] Chr8:55315854..64952752 [GRCh38]
Chr8:56228414..65864987 [GRCh37]
Chr8:56390968..66027541 [NCBI36]
Chr8:8q12.1-12.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1		 pathogenic
GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1 copy number loss See cases [RCV000140643] Chr8:54821357..61146302 [GRCh38]
Chr8:55733917..62058861 [GRCh37]
Chr8:55896471..62221415 [NCBI36]
Chr8:8q12.1-12.2		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q12.1(chr8:54764950-56785299)x1 copy number loss See cases [RCV000142992] Chr8:54764950..56785299 [GRCh38]
Chr8:55677510..57697858 [GRCh37]
Chr8:55840064..57860412 [NCBI36]
Chr8:8q12.1		 pathogenic
GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1 copy number loss See cases [RCV000142642] Chr8:49471778..57825470 [GRCh38]
Chr8:50384337..58738029 [GRCh37]
Chr8:50546890..58900583 [NCBI36]
Chr8:8q11.21-12.1		 pathogenic|likely pathogenic
GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1 copy number loss See cases [RCV000143182] Chr8:53325389..61863018 [GRCh38]
Chr8:54237949..62775577 [GRCh37]
Chr8:54400502..62938131 [NCBI36]
Chr8:8q11.23-12.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
NM_001023.4(RPS20):c.147dup (p.Val50fs) duplication not provided [RCV000190884]|not specified [RCV004020304] Chr8:56073724..56073725 [GRCh38]
Chr8:56986283..56986284 [GRCh37]
Chr8:8q12.1		 uncertain significance
GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3 copy number gain See cases [RCV000239428] Chr8:53436131..65195953 [GRCh37]
Chr8:8q11.23-12.3		 pathogenic
GRCh37/hg19 8q12.1(chr8:56405320-57358911)x1 copy number loss See cases [RCV000240504] Chr8:56405320..57358911 [GRCh37]
Chr8:8q12.1		 likely pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8q12.1(chr8:56806172-57128944)x3 copy number gain See cases [RCV000446388] Chr8:56806172..57128944 [GRCh37]
Chr8:8q12.1		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q11.23-12.1(chr8:54661151-57790737)x3 copy number gain See cases [RCV000445710] Chr8:54661151..57790737 [GRCh37]
Chr8:8q11.23-12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q12.1(chr8:56774541-56991417)x3 copy number gain not provided [RCV000747586] Chr8:56774541..56991417 [GRCh37]
Chr8:8q12.1		 benign
GRCh37/hg19 8q11.21-12.1(chr8:49822483-58822602)x1 copy number loss not provided [RCV000747540] Chr8:49822483..58822602 [GRCh37]
Chr8:8q11.21-12.1		 pathogenic
NM_001023.4(RPS20):c.-6A>G single nucleotide variant not provided [RCV001611714]|not specified [RCV004596476] Chr8:56074389 [GRCh38]
Chr8:56986948 [GRCh37]
Chr8:8q12.1		 benign
NC_000008.11:g.56074770G>C single nucleotide variant not provided [RCV001645392] Chr8:56074770 [GRCh38]
Chr8:56987329 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.3+9G>T single nucleotide variant not provided [RCV001055237] Chr8:56074372 [GRCh38]
Chr8:56986931 [GRCh37]
Chr8:8q12.1		 uncertain significance
NC_000008.11:g.56074895C>T single nucleotide variant not provided [RCV001667655] Chr8:56074895 [GRCh38]
Chr8:56987454 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.178-7G>T single nucleotide variant not provided [RCV000903426] Chr8:56073279 [GRCh38]
Chr8:56985838 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.150G>A (p.Val50=) single nucleotide variant not provided [RCV000897393]|not specified [RCV002465808] Chr8:56073722 [GRCh38]
Chr8:56986281 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.87A>G (p.Val29=) single nucleotide variant not provided [RCV000892521]|not specified [RCV004028421] Chr8:56074076 [GRCh38]
Chr8:56986635 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.4-3T>A single nucleotide variant not provided [RCV000812058] Chr8:56074162 [GRCh38]
Chr8:56986721 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.228G>A (p.Thr76=) single nucleotide variant not provided [RCV000910192]|not specified [RCV002465810] Chr8:56073222 [GRCh38]
Chr8:56985781 [GRCh37]
Chr8:8q12.1		 benign|likely benign
NM_001023.4(RPS20):c.103+5G>A single nucleotide variant not provided [RCV000819256] Chr8:56074055 [GRCh38]
Chr8:56986614 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.138_140del (p.Lys46del) deletion not provided [RCV000803228] Chr8:56073732..56073734 [GRCh38]
Chr8:56986291..56986293 [GRCh37]
Chr8:8q12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3		 pathogenic
NM_001023.4(RPS20):c.154G>A (p.Gly52Arg) single nucleotide variant not provided [RCV000809089] Chr8:56073718 [GRCh38]
Chr8:56986277 [GRCh37]
Chr8:8q12.1		 uncertain significance
NC_000008.11:g.56074681C>G single nucleotide variant not provided [RCV001720348] Chr8:56074681 [GRCh38]
Chr8:56987240 [GRCh37]
Chr8:8q12.1		 benign
NM_001146227.3(RPS20):c.*35G>A single nucleotide variant not provided [RCV001690928]|not specified [RCV003321867] Chr8:56069703 [GRCh38]
Chr8:56982262 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.4-90G>A single nucleotide variant not provided [RCV001640880] Chr8:56074249 [GRCh38]
Chr8:56986808 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.178-181G>C single nucleotide variant not provided [RCV001698607] Chr8:56073453 [GRCh38]
Chr8:56986012 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.174C>T (p.Thr58=) single nucleotide variant not provided [RCV000931134]|not specified [RCV004659262] Chr8:56073698 [GRCh38]
Chr8:56986257 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.177+6G>A single nucleotide variant not provided [RCV001207820] Chr8:56073689 [GRCh38]
Chr8:56986248 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.257dup (p.Arg87fs) duplication not provided [RCV001245340] Chr8:56073192..56073193 [GRCh38]
Chr8:56985751..56985752 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.283_285del (p.Ser95del) deletion not provided [RCV001206688] Chr8:56073165..56073167 [GRCh38]
Chr8:56985724..56985726 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.103+3C>T single nucleotide variant not provided [RCV001241492] Chr8:56074057 [GRCh38]
Chr8:56986616 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.351A>G (p.Ala117=) single nucleotide variant not provided [RCV000935521]|not specified [RCV004029625] Chr8:56073099 [GRCh38]
Chr8:56985658 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.333G>A (p.Glu111=) single nucleotide variant not provided [RCV000889198]|not specified [RCV004028385] Chr8:56073117 [GRCh38]
Chr8:56985676 [GRCh37]
Chr8:8q12.1		 likely benign
NC_000008.11:g.56074746C>G single nucleotide variant not provided [RCV001720353] Chr8:56074746 [GRCh38]
Chr8:56987305 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.3+21G>A single nucleotide variant not specified [RCV002466041] Chr8:56074360 [GRCh38]
Chr8:56986919 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.11A>G (p.Lys4Arg) single nucleotide variant not provided [RCV001054358] Chr8:56074152 [GRCh38]
Chr8:56986711 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001146227.3(RPS20):c.*35+247T>C single nucleotide variant not provided [RCV001596769] Chr8:56069456 [GRCh38]
Chr8:56982015 [GRCh37]
Chr8:8q12.1		 benign
NM_001146227.3(RPS20):c.343T>C (p.Ser115Pro) single nucleotide variant not provided [RCV001620098]|not specified [RCV002465895] Chr8:56069824 [GRCh38]
Chr8:56982383 [GRCh37]
Chr8:8q12.1		 benign
NC_000008.11:g.56074699G>C single nucleotide variant not provided [RCV001678337] Chr8:56074699 [GRCh38]
Chr8:56987258 [GRCh37]
Chr8:8q12.1		 benign
NM_001146227.3(RPS20):c.*35+178G>C single nucleotide variant not provided [RCV001642126] Chr8:56069525 [GRCh38]
Chr8:56982084 [GRCh37]
Chr8:8q12.1		 benign
NM_001146227.3(RPS20):c.*35+220C>T single nucleotide variant not provided [RCV001686539] Chr8:56069483 [GRCh38]
Chr8:56982042 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.177+76G>C single nucleotide variant not provided [RCV001619707] Chr8:56073619 [GRCh38]
Chr8:56986178 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.3(RPS20):c.*236G>C single nucleotide variant not provided [RCV001694816] Chr8:56072854 [GRCh38]
Chr8:56985413 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.3+57C>G single nucleotide variant not provided [RCV001710544] Chr8:56074324 [GRCh38]
Chr8:56986883 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.-117G>C single nucleotide variant not provided [RCV001666926] Chr8:56074500 [GRCh38]
Chr8:56987059 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.26C>T (p.Thr9Ile) single nucleotide variant Hereditary nonpolyposis colon cancer [RCV004570266]|not provided [RCV001063332]|not specified [RCV004030490] Chr8:56074137 [GRCh38]
Chr8:56986696 [GRCh37]
Chr8:8q12.1		 uncertain significance
NC_000008.11:g.56074788T>A single nucleotide variant not provided [RCV001708384] Chr8:56074788 [GRCh38]
Chr8:56987347 [GRCh37]
Chr8:8q12.1		 benign
NC_000008.11:g.56074789C>T single nucleotide variant not provided [RCV001666373] Chr8:56074789 [GRCh38]
Chr8:56987348 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.104-90T>C single nucleotide variant not provided [RCV001666766] Chr8:56073858 [GRCh38]
Chr8:56986417 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.226A>T (p.Thr76Ser) single nucleotide variant not provided [RCV001047460] Chr8:56073224 [GRCh38]
Chr8:56985783 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.178-3C>A single nucleotide variant not provided [RCV001040381] Chr8:56073275 [GRCh38]
Chr8:56985834 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.251T>G (p.Ile84Ser) single nucleotide variant Diamond-Blackfan anemia [RCV001267810] Chr8:56073199 [GRCh38]
Chr8:56985758 [GRCh37]
Chr8:8q12.1		 pathogenic
NM_001023.4(RPS20):c.251T>A (p.Ile84Asn) single nucleotide variant Diamond-Blackfan anemia [RCV001267811] Chr8:56073199 [GRCh38]
Chr8:56985758 [GRCh37]
Chr8:8q12.1		 pathogenic
NM_001023.4(RPS20):c.25_26insTA (p.Thr9fs) insertion not provided [RCV001319412] Chr8:56074137..56074138 [GRCh38]
Chr8:56986696..56986697 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001146227.3(RPS20):c.410C>T (p.Pro137Leu) single nucleotide variant not provided [RCV001356380] Chr8:56069757 [GRCh38]
Chr8:56982316 [GRCh37]
Chr8:8q12.1		 uncertain significance
NC_000008.10:g.(?_56985649)_(56986942_?)dup duplication not provided [RCV001370463] Chr8:56985649..56986942 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.81C>T (p.Arg27=) single nucleotide variant not provided [RCV001300008]|not specified [RCV004036158] Chr8:56074082 [GRCh38]
Chr8:56986641 [GRCh37]
Chr8:8q12.1		 likely benign|uncertain significance
NM_001023.4(RPS20):c.43G>A (p.Val15Met) single nucleotide variant not provided [RCV001374331]|not specified [RCV004037610] Chr8:56074120 [GRCh38]
Chr8:56986679 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.3+5G>A single nucleotide variant not provided [RCV001367629] Chr8:56074376 [GRCh38]
Chr8:56986935 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.158C>A (p.Pro53Gln) single nucleotide variant Hereditary nonpolyposis colon cancer [RCV004570797]|not provided [RCV001327610] Chr8:56073714 [GRCh38]
Chr8:56986273 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.195A>G (p.Thr65=) single nucleotide variant not provided [RCV001510547] Chr8:56073255 [GRCh38]
Chr8:56985814 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.21A>G (p.Gly7=) single nucleotide variant not provided [RCV001452124]|not specified [RCV004038506] Chr8:56074142 [GRCh38]
Chr8:56986701 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.144C>T (p.Leu48=) single nucleotide variant not provided [RCV001474708]|not specified [RCV004037154] Chr8:56073728 [GRCh38]
Chr8:56986287 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.348T>C (p.Ile116=) single nucleotide variant not provided [RCV001441290]|not specified [RCV004038393] Chr8:56073102 [GRCh38]
Chr8:56985661 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.103+7_103+8delinsTT indel not provided [RCV001437262] Chr8:56074052..56074053 [GRCh38]
Chr8:56986611..56986612 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.103+88G>C single nucleotide variant not provided [RCV001688383] Chr8:56073972 [GRCh38]
Chr8:56986531 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.177+180A>G single nucleotide variant not provided [RCV001695533] Chr8:56073515 [GRCh38]
Chr8:56986074 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.4-19T>C single nucleotide variant not provided [RCV001671483] Chr8:56074178 [GRCh38]
Chr8:56986737 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.271T>C (p.Leu91=) single nucleotide variant not provided [RCV001516945]|not specified [RCV004037940] Chr8:56073179 [GRCh38]
Chr8:56985738 [GRCh37]
Chr8:8q12.1		 benign|likely benign
NM_001146227.3(RPS20):c.334-187G>A single nucleotide variant not provided [RCV001680482] Chr8:56070020 [GRCh38]
Chr8:56982579 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.4-11T>C single nucleotide variant not provided [RCV001617792]|not specified [RCV002465896] Chr8:56074170 [GRCh38]
Chr8:56986729 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.4-3T>C single nucleotide variant not provided [RCV001518424]|not specified [RCV002465880] Chr8:56074162 [GRCh38]
Chr8:56986721 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.117G>A (p.Leu39=) single nucleotide variant not provided [RCV001442463]|not specified [RCV004038404] Chr8:56073755 [GRCh38]
Chr8:56986314 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.-90G>T single nucleotide variant not provided [RCV002259456] Chr8:56074473 [GRCh38]
Chr8:56987032 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001146227.3(RPS20):c.*14C>T single nucleotide variant not provided [RCV001779583]|not specified [RCV002465904] Chr8:56069724 [GRCh38]
Chr8:56982283 [GRCh37]
Chr8:8q12.1		 benign|likely benign
NM_001023.4(RPS20):c.177G>A (p.Lys59=) single nucleotide variant not provided [RCV001986905] Chr8:56073695 [GRCh38]
Chr8:56986254 [GRCh37]
Chr8:8q12.1		 uncertain significance
NC_000008.10:g.(?_56854419)_(57906144_?)dup duplication not provided [RCV002020622] Chr8:56854419..57906144 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.131A>G (p.Lys44Arg) single nucleotide variant not provided [RCV002043205]|not specified [RCV004046694] Chr8:56073741 [GRCh38]
Chr8:56986300 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.173C>G (p.Thr58Ser) single nucleotide variant not provided [RCV001969139] Chr8:56073699 [GRCh38]
Chr8:56986258 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV001920223] Chr8:56074381 [GRCh38]
Chr8:56986940 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.31G>A (p.Val11Met) single nucleotide variant not provided [RCV001920530]|not specified [RCV004043323] Chr8:56074132 [GRCh38]
Chr8:56986691 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.280C>T (p.Pro94Ser) single nucleotide variant not provided [RCV001930565] Chr8:56073170 [GRCh38]
Chr8:56985729 [GRCh37]
Chr8:8q12.1		 uncertain significance
NC_000008.10:g.(?_56985649)_(56986942_?)del deletion not provided [RCV001900352] Chr8:56985649..56986942 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.4-4A>G single nucleotide variant not provided [RCV002011694] Chr8:56074163 [GRCh38]
Chr8:56986722 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.28C>G (p.Pro10Ala) single nucleotide variant not provided [RCV001937086] Chr8:56074135 [GRCh38]
Chr8:56986694 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.275A>G (p.His92Arg) single nucleotide variant not provided [RCV001938459]|not specified [RCV004043585] Chr8:56073175 [GRCh38]
Chr8:56985734 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.177+1G>A single nucleotide variant not provided [RCV001990271] Chr8:56073694 [GRCh38]
Chr8:56986253 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.4-8A>G single nucleotide variant not provided [RCV001972112] Chr8:56074167 [GRCh38]
Chr8:56986726 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.5C>T (p.Ala2Val) single nucleotide variant Hereditary nonpolyposis colon cancer [RCV003470994]|not provided [RCV001924805]|not specified [RCV004041321] Chr8:56074158 [GRCh38]
Chr8:56986717 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.93C>T (p.Ser31=) single nucleotide variant not provided [RCV002091065]|not specified [RCV004045776] Chr8:56074070 [GRCh38]
Chr8:56986629 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.103+19C>A single nucleotide variant not provided [RCV002091801] Chr8:56074041 [GRCh38]
Chr8:56986600 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.178-12C>G single nucleotide variant not provided [RCV002104804] Chr8:56073284 [GRCh38]
Chr8:56985843 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.4-15T>C single nucleotide variant not provided [RCV002105053] Chr8:56074174 [GRCh38]
Chr8:56986733 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.192T>C (p.Thr64=) single nucleotide variant not provided [RCV002086020]|not specified [RCV004045759] Chr8:56073258 [GRCh38]
Chr8:56985817 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.4-16A>G single nucleotide variant not provided [RCV002088778]|not specified [RCV004596516] Chr8:56074175 [GRCh38]
Chr8:56986734 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.3+7C>T single nucleotide variant not provided [RCV002168498] Chr8:56074374 [GRCh38]
Chr8:56986933 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.18C>T (p.Thr6=) single nucleotide variant not provided [RCV002207030]|not specified [RCV004045606] Chr8:56074145 [GRCh38]
Chr8:56986704 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.282T>G (p.Pro94=) single nucleotide variant not provided [RCV002145115]|not specified [RCV004046381] Chr8:56073168 [GRCh38]
Chr8:56985727 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.178-18C>A single nucleotide variant not provided [RCV002094712] Chr8:56073290 [GRCh38]
Chr8:56985849 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.105G>A (p.Val35=) single nucleotide variant not provided [RCV002149655]|not specified [RCV004046340] Chr8:56073767 [GRCh38]
Chr8:56986326 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.104-7C>T single nucleotide variant not provided [RCV002113619] Chr8:56073775 [GRCh38]
Chr8:56986334 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.70C>T (p.Leu24=) single nucleotide variant not provided [RCV002115615]|not specified [RCV004046273] Chr8:56074093 [GRCh38]
Chr8:56986652 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.177+14G>T single nucleotide variant not provided [RCV002175089] Chr8:56073681 [GRCh38]
Chr8:56986240 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.3+11A>G single nucleotide variant not provided [RCV002152208] Chr8:56074370 [GRCh38]
Chr8:56986929 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.177+19dup duplication not provided [RCV002152958]|not specified [RCV002465924] Chr8:56073675..56073676 [GRCh38]
Chr8:56986234..56986235 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.104-6C>T single nucleotide variant not provided [RCV002149362] Chr8:56073774 [GRCh38]
Chr8:56986333 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.21A>C (p.Gly7=) single nucleotide variant not provided [RCV002113032]|not specified [RCV004045883] Chr8:56074142 [GRCh38]
Chr8:56986701 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.178-17T>G single nucleotide variant not provided [RCV002215689] Chr8:56073289 [GRCh38]
Chr8:56985848 [GRCh37]
Chr8:8q12.1		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001023.4(RPS20):c.177+12C>T single nucleotide variant not provided [RCV002182731]|not specified [RCV003321900] Chr8:56073683 [GRCh38]
Chr8:56986242 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.103+19C>G single nucleotide variant not provided [RCV002098172] Chr8:56074041 [GRCh38]
Chr8:56986600 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.78C>T (p.Ser26=) single nucleotide variant not provided [RCV002083776]|not specified [RCV004045739] Chr8:56074085 [GRCh38]
Chr8:56986644 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.219T>G (p.Gly73=) single nucleotide variant not provided [RCV002082640]|not specified [RCV004044954] Chr8:56073231 [GRCh38]
Chr8:56985790 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.3+13T>G single nucleotide variant not provided [RCV002122625] Chr8:56074368 [GRCh38]
Chr8:56986927 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.270C>T (p.Asp90=) single nucleotide variant not provided [RCV002140461]|not specified [RCV003321909] Chr8:56073180 [GRCh38]
Chr8:56985739 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.103+14T>A single nucleotide variant not provided [RCV002137688] Chr8:56074046 [GRCh38]
Chr8:56986605 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.138G>A (p.Lys46=) single nucleotide variant not provided [RCV002120016]|not specified [RCV004046297] Chr8:56073734 [GRCh38]
Chr8:56986293 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.177+19G>A single nucleotide variant not provided [RCV002160207] Chr8:56073676 [GRCh38]
Chr8:56986235 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.103+12C>T single nucleotide variant not provided [RCV002139157] Chr8:56074048 [GRCh38]
Chr8:56986607 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.114C>T (p.Asp38=) single nucleotide variant not specified [RCV004049305] Chr8:56073758 [GRCh38]
Chr8:56986317 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.285T>G (p.Ser95=) single nucleotide variant not specified [RCV004062447] Chr8:56073165 [GRCh38]
Chr8:56985724 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.300G>A (p.Gln100=) single nucleotide variant not specified [RCV004065503] Chr8:56073150 [GRCh38]
Chr8:56985709 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.35A>G (p.Glu12Gly) single nucleotide variant not specified [RCV004049206] Chr8:56074128 [GRCh38]
Chr8:56986687 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.122G>A (p.Arg41Lys) single nucleotide variant not provided [RCV003098359]|not specified [RCV004052767] Chr8:56073750 [GRCh38]
Chr8:56986309 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.260G>A (p.Arg87Gln) single nucleotide variant Hereditary nonpolyposis colon cancer [RCV004571153]|not specified [RCV004062923] Chr8:56073190 [GRCh38]
Chr8:56985749 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.261A>G (p.Arg87=) single nucleotide variant not provided [RCV003574965]|not specified [RCV004062957] Chr8:56073189 [GRCh38]
Chr8:56985748 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.118A>G (p.Ile40Val) single nucleotide variant not specified [RCV004050298] Chr8:56073754 [GRCh38]
Chr8:56986313 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.288G>A (p.Glu96=) single nucleotide variant not specified [RCV004063059] Chr8:56073162 [GRCh38]
Chr8:56985721 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.182T>G (p.Leu61Trp) single nucleotide variant not specified [RCV004326094] Chr8:56073268 [GRCh38]
Chr8:56985827 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.84C>A (p.Asn28Lys) single nucleotide variant not specified [RCV004326095] Chr8:56074079 [GRCh38]
Chr8:56986638 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.276C>T (p.His92=) single nucleotide variant not specified [RCV004326096] Chr8:56073174 [GRCh38]
Chr8:56985733 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.356C>G (p.Ala119Gly) single nucleotide variant not provided [RCV002571395]|not specified [RCV002466038] Chr8:56073094 [GRCh38]
Chr8:56985653 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.-33A>T single nucleotide variant not specified [RCV002466042] Chr8:56074416 [GRCh38]
Chr8:56986975 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.*21del deletion not specified [RCV002466037] Chr8:56073069 [GRCh38]
Chr8:56985628 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.4-40A>G single nucleotide variant not specified [RCV002466040] Chr8:56074199 [GRCh38]
Chr8:56986758 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.181_182del (p.Leu61fs) deletion not specified [RCV004059321] Chr8:56073268..56073269 [GRCh38]
Chr8:56985827..56985828 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.210T>C (p.Cys70=) single nucleotide variant not specified [RCV004060363] Chr8:56073240 [GRCh38]
Chr8:56985799 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001146227.3(RPS20):c.334-32C>G single nucleotide variant not specified [RCV002466036] Chr8:56069865 [GRCh38]
Chr8:56982424 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.170C>T (p.Pro57Leu) single nucleotide variant not specified [RCV004060564] Chr8:56073702 [GRCh38]
Chr8:56986261 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.228G>C (p.Thr76=) single nucleotide variant not specified [RCV004062568] Chr8:56073222 [GRCh38]
Chr8:56985781 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.109G>A (p.Ala37Thr) single nucleotide variant not specified [RCV004063930] Chr8:56073763 [GRCh38]
Chr8:56986322 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.63A>G (p.Arg21=) single nucleotide variant not specified [RCV004053936] Chr8:56074100 [GRCh38]
Chr8:56986659 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.72A>T (p.Leu24=) single nucleotide variant not specified [RCV004055861] Chr8:56074091 [GRCh38]
Chr8:56986650 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.30C>T (p.Pro10=) single nucleotide variant not provided [RCV003099197]|not specified [RCV003493932] Chr8:56074133 [GRCh38]
Chr8:56986692 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.269A>G (p.Asp90Gly) single nucleotide variant not specified [RCV004063677] Chr8:56073181 [GRCh38]
Chr8:56985740 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.15T>C (p.Asp5=) single nucleotide variant not specified [RCV004057418] Chr8:56074148 [GRCh38]
Chr8:56986707 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.6T>A (p.Ala2=) single nucleotide variant not specified [RCV004055132] Chr8:56074157 [GRCh38]
Chr8:56986716 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.257A>C (p.Lys86Thr) single nucleotide variant not specified [RCV004062800] Chr8:56073193 [GRCh38]
Chr8:56985752 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.257A>G (p.Lys86Arg) single nucleotide variant not specified [RCV004062801] Chr8:56073193 [GRCh38]
Chr8:56985752 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.143T>C (p.Leu48Pro) single nucleotide variant not specified [RCV004057855] Chr8:56073729 [GRCh38]
Chr8:56986288 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.297G>A (p.Lys99=) single nucleotide variant not provided [RCV003561047]|not specified [RCV004065419] Chr8:56073153 [GRCh38]
Chr8:56985712 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.248G>T (p.Arg83Ile) single nucleotide variant not specified [RCV004063992] Chr8:56073202 [GRCh38]
Chr8:56985761 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.30C>G (p.Pro10=) single nucleotide variant not provided [RCV003560940]|not specified [RCV004048330] Chr8:56074133 [GRCh38]
Chr8:56986692 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.354T>C (p.Asp118=) single nucleotide variant not specified [RCV004049100] Chr8:56073096 [GRCh38]
Chr8:56985655 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.107G>A (p.Cys36Tyr) single nucleotide variant not specified [RCV004060357] Chr8:56073765 [GRCh38]
Chr8:56986324 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.198A>G (p.Arg66=) single nucleotide variant not specified [RCV004061667] Chr8:56073252 [GRCh38]
Chr8:56985811 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.308C>A (p.Ser103Tyr) single nucleotide variant not specified [RCV004048287] Chr8:56073142 [GRCh38]
Chr8:56985701 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.68C>T (p.Thr23Ile) single nucleotide variant not specified [RCV004052941] Chr8:56074095 [GRCh38]
Chr8:56986654 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.309C>T (p.Ser103=) single nucleotide variant not specified [RCV004048317] Chr8:56073141 [GRCh38]
Chr8:56985700 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.163C>A (p.Arg55=) single nucleotide variant not specified [RCV004058129] Chr8:56073709 [GRCh38]
Chr8:56986268 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.102G>A (p.Lys34=) single nucleotide variant not provided [RCV003738239]|not specified [RCV004058824] Chr8:56074061 [GRCh38]
Chr8:56986620 [GRCh37]
Chr8:8q12.1		 likely benign|uncertain significance
NM_001023.4(RPS20):c.279T>C (p.Ser93=) single nucleotide variant not specified [RCV004062247] Chr8:56073171 [GRCh38]
Chr8:56985730 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.27A>G (p.Thr9=) single nucleotide variant not specified [RCV004062250] Chr8:56074136 [GRCh38]
Chr8:56986695 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.162T>G (p.Val54=) single nucleotide variant not specified [RCV004058072] Chr8:56073710 [GRCh38]
Chr8:56986269 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.39G>A (p.Pro13=) single nucleotide variant not specified [RCV004050576] Chr8:56074124 [GRCh38]
Chr8:56986683 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.189C>T (p.Ile63=) single nucleotide variant not specified [RCV004060751] Chr8:56073261 [GRCh38]
Chr8:56985820 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.18C>G (p.Thr6=) single nucleotide variant not specified [RCV004060761] Chr8:56074145 [GRCh38]
Chr8:56986704 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.255C>T (p.His85=) single nucleotide variant not specified [RCV004062218] Chr8:56073195 [GRCh38]
Chr8:56985754 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.166A>C (p.Met56Leu) single nucleotide variant not specified [RCV004059818] Chr8:56073706 [GRCh38]
Chr8:56986265 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.121A>C (p.Arg41=) single nucleotide variant not specified [RCV004053469] Chr8:56073751 [GRCh38]
Chr8:56986310 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.252T>A (p.Ile84=) single nucleotide variant not specified [RCV004062118] Chr8:56073198 [GRCh38]
Chr8:56985757 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.306T>C (p.Thr102=) single nucleotide variant not specified [RCV004066435] Chr8:56073144 [GRCh38]
Chr8:56985703 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.306T>G (p.Thr102=) single nucleotide variant not specified [RCV004066437] Chr8:56073144 [GRCh38]
Chr8:56985703 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.158C>T (p.Pro53Leu) single nucleotide variant not provided [RCV003561015]|not specified [RCV004057350] Chr8:56073714 [GRCh38]
Chr8:56986273 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.69C>T (p.Thr23=) single nucleotide variant not specified [RCV004055105] Chr8:56074094 [GRCh38]
Chr8:56986653 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.141T>C (p.Asn47=) single nucleotide variant not specified [RCV004057236] Chr8:56073731 [GRCh38]
Chr8:56986290 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.12G>A (p.Lys4=) single nucleotide variant not specified [RCV004058250] Chr8:56074151 [GRCh38]
Chr8:56986710 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.183G>A (p.Leu61=) single nucleotide variant not specified [RCV004059973] Chr8:56073267 [GRCh38]
Chr8:56985826 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.171T>A (p.Pro57=) single nucleotide variant not specified [RCV004060616] Chr8:56073701 [GRCh38]
Chr8:56986260 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.84C>T (p.Asn28=) single nucleotide variant not specified [RCV004056194] Chr8:56074079 [GRCh38]
Chr8:56986638 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.93C>G (p.Ser31=) single nucleotide variant not specified [RCV004055734] Chr8:56074070 [GRCh38]
Chr8:56986629 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.47C>T (p.Ala16Val) single nucleotide variant not specified [RCV004052156] Chr8:56074116 [GRCh38]
Chr8:56986675 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.46G>A (p.Ala16Thr) single nucleotide variant not specified [RCV004052001] Chr8:56074117 [GRCh38]
Chr8:56986676 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.225G>A (p.Lys75=) single nucleotide variant not provided [RCV003101177]|not specified [RCV004061944] Chr8:56073225 [GRCh38]
Chr8:56985784 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.101A>C (p.Lys34Thr) single nucleotide variant not specified [RCV004054359] Chr8:56074062 [GRCh38]
Chr8:56986621 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.99A>G (p.Glu33=) single nucleotide variant not specified [RCV004057755] Chr8:56074064 [GRCh38]
Chr8:56986623 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.73A>C (p.Thr25Pro) single nucleotide variant not provided [RCV002816618] Chr8:56074090 [GRCh38]
Chr8:56986649 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.177+2T>C single nucleotide variant not provided [RCV002866866] Chr8:56073693 [GRCh38]
Chr8:56986252 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.178-3C>T single nucleotide variant not provided [RCV002637127] Chr8:56073275 [GRCh38]
Chr8:56985834 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.178-9_178-8del deletion not provided [RCV002736808]|not specified [RCV003321957] Chr8:56073280..56073281 [GRCh38]
Chr8:56985839..56985840 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.4-10C>A single nucleotide variant not provided [RCV002953066] Chr8:56074169 [GRCh38]
Chr8:56986728 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.177+4A>G single nucleotide variant not provided [RCV002877134] Chr8:56073691 [GRCh38]
Chr8:56986250 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.178-19C>T single nucleotide variant not provided [RCV002628942] Chr8:56073291 [GRCh38]
Chr8:56985850 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.177+18G>A single nucleotide variant not provided [RCV002628495] Chr8:56073677 [GRCh38]
Chr8:56986236 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.357T>C (p.Ala119=) single nucleotide variant not provided [RCV003060826] Chr8:56073093 [GRCh38]
Chr8:56985652 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.9T>C (p.Phe3=) single nucleotide variant not provided [RCV002899291]|not specified [RCV004661492] Chr8:56074154 [GRCh38]
Chr8:56986713 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.103+8C>T single nucleotide variant not provided [RCV003087653] Chr8:56074052 [GRCh38]
Chr8:56986611 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.54C>T (p.His18=) single nucleotide variant not provided [RCV002746339] Chr8:56074109 [GRCh38]
Chr8:56986668 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.49A>G (p.Ile17Val) single nucleotide variant not provided [RCV003066998] Chr8:56074114 [GRCh38]
Chr8:56986673 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.141_146del (p.Asn47_Leu48del) deletion not provided [RCV003093683] Chr8:56073726..56073731 [GRCh38]
Chr8:56986285..56986290 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.4-14G>A single nucleotide variant not provided [RCV002588215] Chr8:56074173 [GRCh38]
Chr8:56986732 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.126C>T (p.Gly42=) single nucleotide variant not specified [RCV004279534] Chr8:56073746 [GRCh38]
Chr8:56986305 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.24A>G (p.Lys8=) single nucleotide variant not specified [RCV004279609] Chr8:56074139 [GRCh38]
Chr8:56986698 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.91T>C (p.Ser31Pro) single nucleotide variant not specified [RCV004330384] Chr8:56074072 [GRCh38]
Chr8:56986631 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.32_33del (p.Val11fs) deletion not specified [RCV004330385] Chr8:56074130..56074131 [GRCh38]
Chr8:56986689..56986690 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.69C>G (p.Thr23=) single nucleotide variant not specified [RCV004330386] Chr8:56074094 [GRCh38]
Chr8:56986653 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.66C>T (p.Ile22=) single nucleotide variant not specified [RCV004273427] Chr8:56074097 [GRCh38]
Chr8:56986656 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.222T>C (p.Ser74=) single nucleotide variant not specified [RCV004247481] Chr8:56073228 [GRCh38]
Chr8:56985787 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.177+14G>A single nucleotide variant not specified [RCV003322510] Chr8:56073681 [GRCh38]
Chr8:56986240 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.104-16C>T single nucleotide variant not specified [RCV003322515] Chr8:56073784 [GRCh38]
Chr8:56986343 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.-44C>T single nucleotide variant not specified [RCV003322523] Chr8:56074427 [GRCh38]
Chr8:56986986 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.4-45A>G single nucleotide variant not specified [RCV003322519] Chr8:56074204 [GRCh38]
Chr8:56986763 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.266T>C (p.Ile89Thr) single nucleotide variant not specified [RCV003322500] Chr8:56073184 [GRCh38]
Chr8:56985743 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001146227.3(RPS20):c.350A>T (p.Asp117Val) single nucleotide variant not specified [RCV003322491] Chr8:56069817 [GRCh38]
Chr8:56982376 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001146227.3(RPS20):c.334-22del deletion not specified [RCV003322493] Chr8:56069855 [GRCh38]
Chr8:56982414 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.191C>A (p.Thr64Asn) single nucleotide variant not specified [RCV004366233] Chr8:56073259 [GRCh38]
Chr8:56985818 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.87A>T (p.Val29=) single nucleotide variant not specified [RCV004366232] Chr8:56074076 [GRCh38]
Chr8:56986635 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.144C>G (p.Leu48=) single nucleotide variant not specified [RCV004366231] Chr8:56073728 [GRCh38]
Chr8:56986287 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001146227.3(RPS20):c.*35+8T>A single nucleotide variant not specified [RCV003494335] Chr8:56069695 [GRCh38]
Chr8:56982254 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001146227.3(RPS20):c.334-25_334-22del deletion not specified [RCV003494336] Chr8:56069855..56069858 [GRCh38]
Chr8:56982414..56982417 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.133G>A (p.Glu45Lys) single nucleotide variant Hereditary nonpolyposis colon cancer [RCV003466265] Chr8:56073739 [GRCh38]
Chr8:56986298 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.163C>G (p.Arg55Gly) single nucleotide variant Hereditary nonpolyposis colon cancer [RCV003466264] Chr8:56073709 [GRCh38]
Chr8:56986268 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.5C>G (p.Ala2Gly) single nucleotide variant Hereditary nonpolyposis colon cancer [RCV003466263] Chr8:56074158 [GRCh38]
Chr8:56986717 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.29C>T (p.Pro10Leu) single nucleotide variant Hereditary nonpolyposis colon cancer [RCV003466266] Chr8:56074134 [GRCh38]
Chr8:56986693 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.6T>C (p.Ala2=) single nucleotide variant not provided [RCV003435501] Chr8:56074157 [GRCh38]
Chr8:56986716 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.333G>T (p.Glu111Asp) single nucleotide variant not provided [RCV003576540] Chr8:56073117 [GRCh38]
Chr8:56985676 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.103+22G>T single nucleotide variant not specified [RCV003494337] Chr8:56074038 [GRCh38]
Chr8:56986597 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.103+20G>A single nucleotide variant not specified [RCV003494338] Chr8:56074040 [GRCh38]
Chr8:56986599 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.-3G>T single nucleotide variant not specified [RCV003494340] Chr8:56074386 [GRCh38]
Chr8:56986945 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.239T>A (p.Phe80Tyr) single nucleotide variant not provided [RCV003738759] Chr8:56073211 [GRCh38]
Chr8:56985770 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.286G>T (p.Glu96Ter) single nucleotide variant not provided [RCV003686489] Chr8:56073164 [GRCh38]
Chr8:56985723 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.4-39T>A single nucleotide variant not specified [RCV003494339] Chr8:56074198 [GRCh38]
Chr8:56986757 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.177+19del deletion not provided [RCV003855312] Chr8:56073676 [GRCh38]
Chr8:56986235 [GRCh37]
Chr8:8q12.1		 benign
NM_001023.4(RPS20):c.184A>C (p.Arg62=) single nucleotide variant not provided [RCV003561883] Chr8:56073266 [GRCh38]
Chr8:56985825 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.4-12A>G single nucleotide variant not provided [RCV003724646] Chr8:56074171 [GRCh38]
Chr8:56986730 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.3+11_3+20del deletion not provided [RCV003559441] Chr8:56074361..56074370 [GRCh38]
Chr8:56986920..56986929 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.92C>T (p.Ser31Phe) single nucleotide variant not provided [RCV003559539]|not specified [RCV004369223] Chr8:56074071 [GRCh38]
Chr8:56986630 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.178-14G>A single nucleotide variant not provided [RCV003559821] Chr8:56073286 [GRCh38]
Chr8:56985845 [GRCh37]
Chr8:8q12.1		 likely benign
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
NM_001023.4(RPS20):c.38C>A (p.Pro13Gln) single nucleotide variant not provided [RCV003709933] Chr8:56074125 [GRCh38]
Chr8:56986684 [GRCh37]
Chr8:8q12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001023.4(RPS20):c.4-17dup duplication not provided [RCV003554704] Chr8:56074175..56074176 [GRCh38]
Chr8:56986734..56986735 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.103+9A>G single nucleotide variant not provided [RCV003557186] Chr8:56074051 [GRCh38]
Chr8:56986610 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.157C>T (p.Pro53Ser) single nucleotide variant not provided [RCV003555595]|not specified [RCV004661696] Chr8:56073715 [GRCh38]
Chr8:56986274 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.3+15G>A single nucleotide variant not provided [RCV003555585] Chr8:56074366 [GRCh38]
Chr8:56986925 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.103+13G>C single nucleotide variant not provided [RCV003730988] Chr8:56074047 [GRCh38]
Chr8:56986606 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.71T>C (p.Leu24Pro) single nucleotide variant not provided [RCV003732551] Chr8:56074092 [GRCh38]
Chr8:56986651 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.178-14G>C single nucleotide variant not provided [RCV003567898] Chr8:56073286 [GRCh38]
Chr8:56985845 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.193A>G (p.Thr65Ala) single nucleotide variant not provided [RCV003562533] Chr8:56073257 [GRCh38]
Chr8:56985816 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.16A>T (p.Thr6Ser) single nucleotide variant not provided [RCV003554767] Chr8:56074147 [GRCh38]
Chr8:56986706 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.104-11del deletion not provided [RCV003554853] Chr8:56073779 [GRCh38]
Chr8:56986338 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.243G>C (p.Gln81His) single nucleotide variant not specified [RCV004521048] Chr8:56073207 [GRCh38]
Chr8:56985766 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.94T>C (p.Leu32=) single nucleotide variant not specified [RCV004521050] Chr8:56074069 [GRCh38]
Chr8:56986628 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.143_144del (p.Leu48fs) microsatellite not specified [RCV004521047] Chr8:56073728..56073729 [GRCh38]
Chr8:56986287..56986288 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001146227.3(RPS20):c.421C>G (p.Pro141Ala) single nucleotide variant RPS20-related disorder [RCV003934509] Chr8:56069746 [GRCh38]
Chr8:56982305 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.3+10C>A single nucleotide variant RPS20-related disorder [RCV003901385] Chr8:56074371 [GRCh38]
Chr8:56986930 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.123A>G (p.Arg41=) single nucleotide variant not specified [RCV004521046] Chr8:56073749 [GRCh38]
Chr8:56986308 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.285T>C (p.Ser95=) single nucleotide variant not specified [RCV004521049] Chr8:56073165 [GRCh38]
Chr8:56985724 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.236G>A (p.Arg79His) single nucleotide variant Hereditary nonpolyposis colon cancer [RCV004574796] Chr8:56073214 [GRCh38]
Chr8:56985773 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001146227.3(RPS20):c.*34A>C single nucleotide variant not specified [RCV004595955] Chr8:56069704 [GRCh38]
Chr8:56982263 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001146227.3(RPS20):c.334-9G>C single nucleotide variant not specified [RCV004595956] Chr8:56069842 [GRCh38]
Chr8:56982401 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.157C>G (p.Pro53Ala) single nucleotide variant not specified [RCV004665794] Chr8:56073715 [GRCh38]
Chr8:56986274 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.110C>G (p.Ala37Gly) single nucleotide variant Hereditary nonpolyposis colon cancer [RCV004574797] Chr8:56073762 [GRCh38]
Chr8:56986321 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.-22A>G single nucleotide variant not specified [RCV004595960] Chr8:56074405 [GRCh38]
Chr8:56986964 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.177+37T>C single nucleotide variant not specified [RCV004595958] Chr8:56073658 [GRCh38]
Chr8:56986217 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.46G>T (p.Ala16Ser) single nucleotide variant not specified [RCV004674240] Chr8:56074117 [GRCh38]
Chr8:56986676 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.345C>T (p.Thr115=) single nucleotide variant not specified [RCV004674242] Chr8:56073105 [GRCh38]
Chr8:56985664 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.135A>G (p.Glu45=) single nucleotide variant not specified [RCV004674243] Chr8:56073737 [GRCh38]
Chr8:56986296 [GRCh37]
Chr8:8q12.1		 likely benign
NM_001023.4(RPS20):c.136_140del (p.Lys46fs) microsatellite not specified [RCV004674244] Chr8:56073732..56073736 [GRCh38]
Chr8:56986291..56986295 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.236G>T (p.Arg79Leu) single nucleotide variant not specified [RCV004665795] Chr8:56073214 [GRCh38]
Chr8:56985773 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.119T>G (p.Ile40Arg) single nucleotide variant not specified [RCV004595959] Chr8:56073753 [GRCh38]
Chr8:56986312 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_001023.4(RPS20):c.17C>T (p.Thr6Ile) single nucleotide variant not specified [RCV004665793] Chr8:56074146 [GRCh38]
Chr8:56986705 [GRCh37]
Chr8:8q12.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1727
Count of miRNA genes:598
Interacting mature miRNAs:667
Transcripts:ENST00000009589, ENST00000518875, ENST00000519369, ENST00000519606, ENST00000519807, ENST00000520490, ENST00000520627, ENST00000521262, ENST00000521289, ENST00000523936, ENST00000524349
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597115155GWAS1211229_Hsystemic lupus erythematosus QTL GWAS1211229 (human)4e-08systemic lupus erythematosus85606824456068245Human
1300005BP49_HBlood pressure QTL 49 (human)2.240.00066Blood pressuresystolic85317742079177420Human
2289597BW470_HBody weight QTL 470 (human)1.3Body weightBMI83977088765770887Human

Markers in Region
D8S1961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37856,986,051 - 56,986,282UniSTSGRCh37
Build 36857,148,605 - 57,148,836RGDNCBI36
Celera852,977,887 - 52,978,119RGD
Cytogenetic Map8q12UniSTS
HuRef852,453,537 - 52,453,769UniSTS
Whitehead-RH Map8395.1UniSTS
Whitehead-YAC Contig Map8 UniSTS
NCBI RH Map8785.4UniSTS
D3S3911  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q12UniSTS
Cytogenetic Map11q14.1UniSTS
Whitehead-YAC Contig Map3 UniSTS
RPS20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37856,985,779 - 56,986,281UniSTSGRCh37
Celera852,977,615 - 52,978,118UniSTS
HuRef852,453,265 - 52,453,768UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB007156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB061842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV716603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC087850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ064297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB138358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD671362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L06498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000009589   ⟹   ENSP00000009589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,073,054 - 56,074,506 (-)Ensembl
Ensembl Acc Id: ENST00000518875   ⟹   ENSP00000428146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,073,316 - 56,074,498 (-)Ensembl
Ensembl Acc Id: ENST00000519369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,073,462 - 56,074,506 (-)Ensembl
Ensembl Acc Id: ENST00000519606   ⟹   ENSP00000429333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,073,075 - 56,074,506 (-)Ensembl
Ensembl Acc Id: ENST00000519807   ⟹   ENSP00000429374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,067,295 - 56,074,509 (-)Ensembl
Ensembl Acc Id: ENST00000520490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,073,054 - 56,074,472 (-)Ensembl
Ensembl Acc Id: ENST00000520627   ⟹   ENSP00000427860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,073,054 - 56,074,510 (-)Ensembl
Ensembl Acc Id: ENST00000521262   ⟹   ENSP00000427788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,073,054 - 56,074,510 (-)Ensembl
Ensembl Acc Id: ENST00000521289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,073,127 - 56,074,506 (-)Ensembl
Ensembl Acc Id: ENST00000523936   ⟹   ENSP00000428104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,073,073 - 56,074,356 (-)Ensembl
Ensembl Acc Id: ENST00000524349   ⟹   ENSP00000429049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,073,042 - 56,074,506 (-)Ensembl
Ensembl Acc Id: ENST00000618656   ⟹   ENSP00000478703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,067,254 - 56,074,144 (-)Ensembl
Ensembl Acc Id: ENST00000676461   ⟹   ENSP00000504670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,067,269 - 56,074,508 (-)Ensembl
Ensembl Acc Id: ENST00000676918   ⟹   ENSP00000503327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,067,611 - 56,074,508 (-)Ensembl
Ensembl Acc Id: ENST00000678039   ⟹   ENSP00000504154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,067,311 - 56,074,508 (-)Ensembl
Ensembl Acc Id: ENST00000678683   ⟹   ENSP00000504123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,068,811 - 56,074,510 (-)Ensembl
RefSeq Acc Id: NM_001023   ⟹   NP_001014
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38856,073,054 - 56,074,506 (-)NCBI
GRCh37856,980,739 - 56,987,140 (-)RGD
Build 36857,148,167 - 57,149,623 (-)NCBI Archive
Celera852,972,573 - 52,978,977 (-)RGD
HuRef852,448,024 - 52,454,627 (-)RGD
CHM1_1857,036,809 - 57,038,581 (-)NCBI
T2T-CHM13v2.0856,450,056 - 56,451,508 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001146227   ⟹   NP_001139699
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38856,067,254 - 56,074,506 (-)NCBI
GRCh37856,980,739 - 56,987,140 (-)RGD
Celera852,972,573 - 52,978,977 (-)RGD
HuRef852,448,024 - 52,454,627 (-)RGD
CHM1_1857,032,188 - 57,038,581 (-)NCBI
T2T-CHM13v2.0856,444,256 - 56,451,508 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001139699   ⟸   NM_001146227
- Peptide Label: isoform 1
- UniProtKB: A0A7P0S5H5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001014   ⟸   NM_001023
- Peptide Label: isoform 2
- UniProtKB: P60866 (UniProtKB/Swiss-Prot),   P17075 (UniProtKB/Swiss-Prot),   B4DW28 (UniProtKB/Swiss-Prot),   B2R4F4 (UniProtKB/Swiss-Prot),   Q5M8S9 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000428146   ⟸   ENST00000518875
Ensembl Acc Id: ENSP00000429374   ⟸   ENST00000519807
Ensembl Acc Id: ENSP00000429333   ⟸   ENST00000519606
Ensembl Acc Id: ENSP00000009589   ⟸   ENST00000009589
Ensembl Acc Id: ENSP00000427860   ⟸   ENST00000520627
Ensembl Acc Id: ENSP00000427788   ⟸   ENST00000521262
Ensembl Acc Id: ENSP00000428104   ⟸   ENST00000523936
Ensembl Acc Id: ENSP00000429049   ⟸   ENST00000524349
Ensembl Acc Id: ENSP00000478703   ⟸   ENST00000618656
Ensembl Acc Id: ENSP00000503327   ⟸   ENST00000676918
Ensembl Acc Id: ENSP00000504670   ⟸   ENST00000676461
Ensembl Acc Id: ENSP00000504154   ⟸   ENST00000678039
Ensembl Acc Id: ENSP00000504123   ⟸   ENST00000678683
Protein Domains
Small ribosomal subunit protein uS10

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P60866-F1-model_v2 AlphaFold P60866 1-119 view protein structure

Promoters
RGD ID:7213337
Promoter ID:EPDNEW_H12414
Type:initiation region
Name:RPS20_2
Description:ribosomal protein S20
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12415  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38856,073,746 - 56,073,806EPDNEW
RGD ID:7213339
Promoter ID:EPDNEW_H12415
Type:initiation region
Name:RPS20_1
Description:ribosomal protein S20
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12414  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38856,074,506 - 56,074,566EPDNEW
RGD ID:6807011
Promoter ID:HG_KWN:61325
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001023,   UC003XSM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36857,149,341 - 57,149,841 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10405 AgrOrtholog
COSMIC RPS20 COSMIC
Ensembl Genes ENSG00000008988 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000009589 ENTREZGENE
  ENST00000009589.8 UniProtKB/Swiss-Prot
  ENST00000518875.5 UniProtKB/TrEMBL
  ENST00000519606.5 UniProtKB/TrEMBL
  ENST00000519807 ENTREZGENE
  ENST00000519807.5 UniProtKB/Swiss-Prot
  ENST00000520627.1 UniProtKB/TrEMBL
  ENST00000521262.5 UniProtKB/Swiss-Prot
  ENST00000523936.5 UniProtKB/TrEMBL
  ENST00000524349.5 UniProtKB/TrEMBL
  ENST00000618656.2 UniProtKB/TrEMBL
  ENST00000676461.1 UniProtKB/Swiss-Prot
  ENST00000676918.1 UniProtKB/Swiss-Prot
  ENST00000678039.1 UniProtKB/Swiss-Prot
  ENST00000678683.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.70.600 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000008988 GTEx
HGNC ID HGNC:10405 ENTREZGENE
Human Proteome Map RPS20 Human Proteome Map
InterPro Ribosomal_S10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S10_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S10_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S10_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S10_euk/arc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6224 UniProtKB/Swiss-Prot
NCBI Gene 6224 ENTREZGENE
OMIM 603682 OMIM
PANTHER PTHR11700 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ribosomal_S10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34807 PharmGKB
PRINTS RIBOSOMALS10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RIBOSOMAL_S10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Ribosomal_S10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54999 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7P0S5H5 ENTREZGENE, UniProtKB/TrEMBL
  B2R4F4 ENTREZGENE
  B4DW28 ENTREZGENE
  E5RIP1_HUMAN UniProtKB/TrEMBL
  E5RJX2_HUMAN UniProtKB/TrEMBL
  G3XAN0_HUMAN UniProtKB/TrEMBL
  P17075 ENTREZGENE
  P60866 ENTREZGENE
  Q5M8S9 ENTREZGENE
  RS20_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2R4F4 UniProtKB/Swiss-Prot
  B4DW28 UniProtKB/Swiss-Prot
  P17075 UniProtKB/Swiss-Prot
  Q5M8S9 UniProtKB/Swiss-Prot