TNFRSF11B (TNF receptor superfamily member 11b) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: TNFRSF11B (TNF receptor superfamily member 11b) Homo sapiens
Analyze
Symbol: TNFRSF11B
Name: TNF receptor superfamily member 11b
RGD ID: 730969
HGNC Page HGNC:11909
Description: Predicted to enable cytokine activity and signaling receptor activity. Predicted to be involved in signal transduction and skeletal system development. Predicted to act upstream of or within several processes, including negative regulation of odontogenesis of dentin-containing tooth; negative regulation of osteoclast differentiation; and negative regulation of tumor necrosis factor-mediated signaling pathway. Located in extracellular space. Part of receptor complex. Implicated in Paget's disease of bone; Paget's disease of bone 5; and osteoarthritis. Biomarker of several diseases, including artery disease (multiple); end stage renal disease; hereditary arterial and articular multiple calcification syndrome; lupus nephritis; and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC29565; OCIF; OPG; osteoclastogenesis inhibitory factor; osteoprotegerin; Paget disease of bone 5; PDB5; TR1; tumor necrosis factor receptor superfamily member 11B; tumor necrosis factor receptor superfamily, member 11b
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388118,923,557 - 118,951,885 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8118,923,557 - 118,951,885 (-)EnsemblGRCh38hg38GRCh38
GRCh378119,935,796 - 119,964,124 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368120,004,977 - 120,033,564 (-)NCBINCBI36Build 36hg18NCBI36
Build 348120,004,977 - 120,033,492NCBI
Celera8116,124,073 - 116,152,621 (-)NCBICelera
Cytogenetic Map8q24.12NCBI
HuRef8115,263,331 - 115,291,874 (-)NCBIHuRef
CHM1_18119,976,820 - 120,005,398 (-)NCBICHM1_1
T2T-CHM13v2.08120,051,990 - 120,080,310 (-)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
(-)-anisomycin  (ISO)
(20S)-ginsenoside Rg3  (ISO)
(S)-nicotine  (ISO)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3-chloropropane-1,2-diol  (EXP,ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
4,4'-diaminodiphenylmethane  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
aldehydo-D-glucosamine  (EXP)
aldehydo-D-glucose  (EXP)
alendronic acid  (ISO)
all-trans-retinoic acid  (EXP)
allopurinol  (ISO)
ammonium chloride  (ISO)
amsacrine  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
antimycin A  (ISO)
aripiprazole  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP,ISO)
atorvastatin calcium  (ISO)
avobenzone  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
Butylbenzyl phthalate  (EXP,ISO)
Butylparaben  (EXP)
cadmium acetate  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (ISO)
calciol  (EXP,ISO)
calcitriol  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
cannabidiol  (EXP)
carbamazepine  (EXP)
carbocyclic thromboxane A2  (EXP)
carbon nanotube  (ISO)
carbonyl sulfide  (ISO)
carmustine  (EXP)
celecoxib  (EXP)
CGP 52608  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chondroitin sulfate  (EXP)
chromium(3+) trichloride  (ISO)
clothianidin  (EXP)
cobalt dichloride  (ISO)
cocaine  (ISO)
corticosterone  (ISO)
crocidolite asbestos  (EXP)
cycloheximide  (EXP)
cyclosporin A  (EXP,ISO)
D-glucose  (EXP)
daidzein  (EXP)
DDE  (ISO)
DDT  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP,ISO)
dibutyl phthalate  (ISO)
diethyl malate  (ISO)
diethyl phthalate  (ISO)
dihydro-beta-erythroidine  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dioscin  (ISO)
dioxygen  (EXP)
disodium selenite  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
ethylparaben  (EXP)
etoposide  (ISO)
fenofibrate  (EXP)
fenvalerate  (ISO)
flavonoids  (ISO)
flutamide  (EXP)
folic acid  (ISO)
fonofos  (EXP)
fulvestrant  (EXP,ISO)
furan  (ISO)
gadolinium trichloride  (EXP)
gemcitabine  (EXP)
genistein  (EXP,ISO)
glucose  (EXP)
glycerol 2-phosphate  (EXP)
glycidol  (ISO)
glyphosate  (EXP)
hydrogen peroxide  (EXP)
icariin  (ISO)
icariside II  (ISO)
Icaritin  (ISO)
indometacin  (EXP)
iron dextran  (ISO)
isoflurane  (ISO)
isonicotinamide  (ISO)
ketamine  (ISO)
L-ascorbic acid  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
leflunomide  (ISO)
levonorgestrel  (EXP)
lipopolysaccharide  (EXP,ISO)
lovastatin  (ISO)
menadione  (EXP)
menaquinone-4  (ISO)
menaquinone-7  (ISO)
methotrexate  (EXP,ISO)
methylmercury chloride  (EXP)
mifepristone  (ISO)
Myrtucommulone A  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
naringin  (ISO)
nickel atom  (EXP)
nicotinamide  (ISO)
nicotine  (ISO)
O-methyleugenol  (EXP)
okadaic acid  (EXP)
orphenadrine  (ISO)
ospemifene  (EXP)
ozagrel  (EXP)
ozone  (EXP)
p-menthan-3-ol  (EXP)
pamidronate  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP)
parathion  (EXP)
paricalcitol  (EXP)
pentobarbital  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
phenethyl caffeate  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phosphorus atom  (EXP)
phosphorus(.)  (EXP)
pioglitazone  (EXP)
pirinixic acid  (ISO)
poly(ethylene)  (EXP)
potassium chromate  (EXP)
potassium dichromate  (ISO)
progesterone  (EXP)
prostaglandin D2  (ISO)
prostaglandin E1  (ISO)
prostaglandin E2  (ISO)
prostaglandin F2alpha  (ISO)
puerarin  (ISO)
pyrethrins  (EXP)
quercetin  (EXP)
raloxifene  (EXP)
resveratrol  (EXP,ISO)
rotenone  (EXP,ISO)
rubiadin  (ISO)
Sanggenon C  (ISO)
SB 203580  (EXP,ISO)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
simvastatin  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (EXP,ISO)
streptozocin  (ISO)
sulfasalazine  (EXP)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
tamoxifen  (EXP,ISO)
telmisartan  (ISO)
terbufos  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium atom  (EXP,ISO)
toluene  (ISO)
tributylstannane  (EXP,ISO)
trichloroethene  (ISO)
trichostatin A  (EXP,ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (EXP,ISO)
uranium atom  (ISO)
usnic acid  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
zinc dichloride  (ISO)
zoledronic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal clavicle morphology  (IAGP)
Abnormal intervertebral disk morphology  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the dentition  (IAGP)
Angioid streaks of the fundus  (IAGP)
Ankylosis  (IAGP)
Arthralgia  (IAGP)
Arthritis  (IAGP)
Autosomal recessive inheritance  (IAGP)
Barrel-shaped chest  (IAGP)
Bowing of the long bones  (IAGP)
Calcification of cartilage  (IAGP)
Chondrocalcinosis  (IAGP)
Coarse metaphyseal trabecularization  (IAGP)
Cranial hyperostosis  (IAGP)
Decreased body mass index  (IAGP)
Delayed gross motor development  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated serum acid phosphatase  (IAGP)
Failure to thrive  (IAGP)
Fever  (IAGP)
Hearing impairment  (IAGP)
Hydroxyprolinemia  (IAGP)
Hydroxyprolinuria  (IAGP)
Hypercalciuria  (IAGP)
Hyperphosphatemia  (IAGP)
Hypertension  (IAGP)
Hyperuricemia  (IAGP)
Hypotonia  (IAGP)
Increased bone mineral density  (IAGP)
Increased inflammatory response  (IAGP)
Increased urine deoxypyridinoline level  (IAGP)
Infantile onset  (IAGP)
Joint dislocation  (IAGP)
Joint stiffness  (IAGP)
Joint swelling  (IAGP)
Kyphosis  (IAGP)
Lateral femoral bowing  (IAGP)
Limitation of joint mobility  (IAGP)
Macrocephaly  (IAGP)
Macular scar  (IAGP)
Melanocytic nevus  (IAGP)
Motor delay  (IAGP)
Multiple exostoses  (IAGP)
Muscle weakness  (IAGP)
Optic atrophy  (IAGP)
Osteoarthritis  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Pectus carinatum  (IAGP)
Premature loss of teeth  (IAGP)
Progressive  (IAGP)
Recurrent fractures  (IAGP)
Reduced bone mineral density  (IAGP)
Relative macrocephaly  (IAGP)
Retinal degeneration  (IAGP)
Retinopathy  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short humerus  (IAGP)
Short stature  (IAGP)
Subcutaneous nodule  (IAGP)
Synovitis  (IAGP)
Thickened calvaria  (IAGP)
Variable expressivity  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Calcium metabolism in adults with severe aortic valve stenosis and preserved renal function. Akat K, etal., Am J Cardiol. 2010 Mar 15;105(6):862-4. doi: 10.1016/j.amjcard.2009.10.065.
2. Decreased serum osteoprotegerin levels in patients with cardiac syndrome X. Altun A, etal., J Endocrinol Invest. 2004 Oct;27(9):839-43.
3. Markers of bone metastases in breast and lung cancers. Bilgin E, etal., Asian Pac J Cancer Prev. 2012;13(9):4331-4.
4. Osteoprotegerin is associated with cardiovascular risk in hypertension and/or diabetes. Blazquez-Medela AM, etal., Eur J Clin Invest. 2012 May;42(5):548-56. doi: 10.1111/j.1365-2362.2011.02619.x. Epub 2011 Nov 4.
5. Telmisartan Prevents Alveolar Bone Loss by Decreasing the Expression of Osteoclasts Markers in Hypertensive Rats With Periodontal Disease. Brito VGB, etal., Front Pharmacol. 2020 Nov 11;11:579926. doi: 10.3389/fphar.2020.579926. eCollection 2020.
6. Long-term sequential receptor activator of NF-kappaB ligand (RANKL) and osteoprotegrin (OPG) expression in lipopolysaccharide-induced rat periapical lesions. Chuang FH, etal., J Oral Pathol Med. 2012 Feb;41(2):186-93. doi: 10.1111/j.1600-0714.2011.01065.x. Epub 2011 Jul 28.
7. Reduced bone resorption and inflammation in apical periodontitis evoked by dietary supplementation with probiotics in rats. Cosme-Silva L, etal., Int Endod J. 2020 Aug;53(8):1084-1092. doi: 10.1111/iej.13311. Epub 2020 May 21.
8. Serum levels of osteoprotegerin and RANKL in patients with ST elevation acute myocardial infarction. Crisafulli A, etal., Clin Sci (Lond). 2005 Oct;109(4):389-95.
9. A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype. Cundy T, etal., Hum Mol Genet. 2002 Sep 1;11(18):2119-27.
10. Imbalance of RANK, RANKL and OPG expression during tibial fracture repair in diabetic rats. de Amorim FP, etal., J Mol Histol. 2008 Aug;39(4):401-8. Epub 2008 Jul 1.
11. Correlations of urinary biomarkers, TNF-like weak inducer of apoptosis (TWEAK), osteoprotegerin (OPG), monocyte chemoattractant protein-1 (MCP-1), and IL-8 with lupus nephritis. El-Shehaby A, etal., J Clin Immunol. 2011 Oct;31(5):848-56. doi: 10.1007/s10875-011-9555-1. Epub 2011 Jun 21.
12. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
13. Early molecular responses of bone to obstructive nephropathy induced by unilateral ureteral obstruction in mice. Gu SS, etal., Nephrology (Carlton). 2012 Nov;17(8):767-73. doi: 10.1111/j.1440-1797.2012.01656.x.
14. Serum osteoprotegerin levels in patients with acute atherothrombotic stroke and lacunar infarct. Guldiken B, etal., Thromb Res. 2007 Jan 24;.
15. Osteoprotegerin concentrations and prognosis in acute ischaemic stroke. Jensen JK, etal., J Intern Med. 2010 Apr;267(4):410-7. doi: 10.1111/j.1365-2796.2009.02163.x. Epub 2009 Aug 26.
16. Plasma osteoprotegerin levels predict cardiovascular and all-cause mortality and deterioration of kidney function in type 1 diabetic patients with nephropathy. Jorsal A, etal., Diabetologia. 2008 Nov;51(11):2100-7. doi: 10.1007/s00125-008-1123-8. Epub 2008 Aug 22.
17. Osteoprotegerin is a risk factor for progressive atherosclerosis and cardiovascular disease. Kiechl S, etal., Circulation. 2004 May 11;109(18):2175-80. Epub 2004 Apr 26.
18. Serum osteoprotegerin is a predictor of progression of atherosclerosis and coronary calcification in hemodialysis patients. Kurnatowska I, etal., Nephron Clin Pract. 2011;117(4):c297-304. doi: 10.1159/000321169. Epub 2010 Sep 22.
19. Sinomenine suppresses osteoclast formation and Mycobacterium tuberculosis H37Ra-induced bone loss by modulating RANKL signaling pathways. Li X, etal., PLoS One. 2013 Sep 16;8(9):e74274. doi: 10.1371/journal.pone.0074274. eCollection 2013.
20. [Serum osteoprotegerin level in children with nephrotic syndrome and the effect of glucocorticoid on it]. Li YL and Wang H, Zhongguo Dang Dai Er Ke Za Zhi. 2012 Sep;14(9):653-6.
21. Osteoprotegerin/RANK/RANKL axis in cardiac remodeling due to immuno-inflammatory myocardial disease. Liu W, etal., Exp Mol Pathol. 2008 Jun;84(3):213-7. Epub 2008 Mar 7.
22. [Effects of kangfengshi granules on expressions of osteoprotegerin, RANKL and M-CSF in bone tissues of rats with collagen-induced arthritis] Liu YH, etal., Zhong Xi Yi Jie He Xue Bao. 2006 May;4(3):307-10.
23. The RANKL/RANK/OPG signaling pathway mediates medial arterial calcification in diabetic Charcot neuroarthropathy. Ndip A, etal., Diabetes. 2011 Aug;60(8):2187-96. doi: 10.2337/db10-1220. Epub 2011 Jun 9.
24. Lovastatin raises serum osteoprotegerin level in people with type 2 diabetic nephropathy. Nezami N, etal., Clin Biochem. 2010 Nov;43(16-17):1294-9. doi: 10.1016/j.clinbiochem.2010.08.012. Epub 2010 Aug 19.
25. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
26. Icariin Prevents Diabetes-Induced Bone Loss in Rats by Reducing Blood Glucose and Suppressing Bone Turnover. Qi S, etal., Molecules. 2019 May 15;24(10):1871. doi: 10.3390/molecules24101871.
27. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
28. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
29. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
30. Relationship of serum osteoprotegerin levels with coronary artery disease severity, left ventricular hypertrophy and C-reactive protein. Rhee EJ, etal., Clin Sci (Lond). 2005 Mar;108(3):237-43.
31. Osteoprotegerin: a novel secreted protein involved in the regulation of bone density. Simonet WS, etal., Cell 1997 Apr 18;89(2):309-19.
32. Prevalence and progression of peripheral vascular calcification in type 2 diabetes subjects with preserved kidney function. Singh DK, etal., Diabetes Res Clin Pract. 2012 Jul;97(1):158-65. doi: 10.1016/j.diabres.2012.01.038. Epub 2012 Mar 3.
33. Serum osteoprotegerin, RANKL and fibroblast growth factor-23 in children with chronic kidney disease. Siomou E, etal., Pediatr Nephrol. 2011 Jul;26(7):1105-14. doi: 10.1007/s00467-011-1870-5. Epub 2011 Apr 9.
34. Dysregulated osteoprotegerin/RANK ligand/RANK axis in clinical and experimental heart failure. Ueland T, etal., Circulation. 2005 May 17;111(19):2461-8. Epub 2005 May 9.
35. The relationship between insulin resistance assessed by HOMA-IR and serum osteoprotegerin levels in obesity. Ugur-Altun B, etal., Diabetes Res Clin Pract. 2005 Jun;68(3):217-22. Epub 2005 Jan 18.
36. Association study of candidate genes for the prevalence and progression of knee osteoarthritis. Valdes AM, etal., Arthritis Rheum. 2004 Aug;50(8):2497-507.
37. Icariin Restores Bone Structure and Strength in a Rat Model of Chronic High-Dose Alcohol-Induced Osteopenia. Wu JZ, etal., Cell Physiol Biochem. 2018;46(4):1727-1736. doi: 10.1159/000489248. Epub 2018 Apr 23.
38. Association between increased serum osteoprotegerin levels and improvement in bone mineral density after parathyroidectomy in hemodialysis patients. Zheng CM, etal., Tohoku J Exp Med. 2012;226(1):19-27.
39. Osteoprotegerin plasma concentrations correlate with severity of peripheral artery disease. Ziegler S, etal., Atherosclerosis. 2005 Sep;182(1):175-80. Epub 2005 Apr 26.
Additional References at PubMed
PMID:8125298   PMID:9168977   PMID:9434163   PMID:9478964   PMID:9492069   PMID:9520411   PMID:9571159   PMID:9573043   PMID:9603945   PMID:9688283   PMID:9950424   PMID:10706119  
PMID:11035950   PMID:11139569   PMID:11451955   PMID:11505389   PMID:11912131   PMID:12052453   PMID:12054556   PMID:12054560   PMID:12054622   PMID:12056809   PMID:12067713   PMID:12073153  
PMID:12096838   PMID:12110935   PMID:12124406   PMID:12150965   PMID:12153751   PMID:12177271   PMID:12181640   PMID:12210731   PMID:12213849   PMID:12213850   PMID:12221720   PMID:12351414  
PMID:12364326   PMID:12364420   PMID:12398237   PMID:12412803   PMID:12469211   PMID:12477932   PMID:12564836   PMID:12584041   PMID:12619938   PMID:12662434   PMID:12824864   PMID:12857926  
PMID:12923331   PMID:14504888   PMID:14508625   PMID:14529897   PMID:14672344   PMID:14680982   PMID:14734048   PMID:14999524   PMID:15059506   PMID:15064358   PMID:15124262   PMID:15155868  
PMID:15223723   PMID:15242994   PMID:15290725   PMID:15292302   PMID:15292354   PMID:15301860   PMID:15307108   PMID:15308561   PMID:15312251   PMID:15313187   PMID:15340161   PMID:15386310  
PMID:15489334   PMID:15504545   PMID:15516325   PMID:15521102   PMID:15538968   PMID:15564564   PMID:15615493   PMID:15630493   PMID:15638385   PMID:15647836   PMID:15700136   PMID:15721297  
PMID:15757850   PMID:15782282   PMID:15794927   PMID:15799029   PMID:15978970   PMID:16123486   PMID:16133687   PMID:16143421   PMID:16151677   PMID:16152630   PMID:16215261   PMID:16240334  
PMID:16249885   PMID:16287088   PMID:16288714   PMID:16341674   PMID:16343827   PMID:16344560   PMID:16453284   PMID:16491292   PMID:16512757   PMID:16512834   PMID:16533764   PMID:16583245  
PMID:16601843   PMID:16611736   PMID:16620835   PMID:16678184   PMID:16687626   PMID:16712673   PMID:16804084   PMID:16831934   PMID:16949901   PMID:16953816   PMID:16980077   PMID:16999948  
PMID:17111200   PMID:17147692   PMID:17148684   PMID:17189957   PMID:17288531   PMID:17328075   PMID:17354199   PMID:17388729   PMID:17403189   PMID:17443309   PMID:17448630   PMID:17470718  
PMID:17471510   PMID:17558893   PMID:17570371   PMID:17598007   PMID:17606458   PMID:17631639   PMID:17634140   PMID:17667143   PMID:17702740   PMID:17703334   PMID:17706953   PMID:17711477  
PMID:17712025   PMID:17723135   PMID:17804683   PMID:17852826   PMID:17876645   PMID:17878722   PMID:17895323   PMID:17923273   PMID:17966895   PMID:17970704   PMID:17993768   PMID:18000166  
PMID:18040268   PMID:18061491   PMID:18081868   PMID:18083042   PMID:18156213   PMID:18172654   PMID:18174230   PMID:18178454   PMID:18190241   PMID:18208894   PMID:18251702   PMID:18252198  
PMID:18253488   PMID:18271681   PMID:18298349   PMID:18299469   PMID:18305214   PMID:18311801   PMID:18319311   PMID:18319315   PMID:18328262   PMID:18338379   PMID:18348083   PMID:18362509  
PMID:18367263   PMID:18398265   PMID:18399769   PMID:18445777   PMID:18455228   PMID:18490014   PMID:18565244   PMID:18565252   PMID:18579554   PMID:18589796   PMID:18624938   PMID:18634923  
PMID:18668542   PMID:18676739   PMID:18683730   PMID:18684318   PMID:18697793   PMID:18722030   PMID:18727653   PMID:18789716   PMID:18802807   PMID:18814141   PMID:18821330   PMID:18925325  
PMID:18928898   PMID:18929691   PMID:18931513   PMID:18938269   PMID:18945829   PMID:19014892   PMID:19053023   PMID:19058836   PMID:19062016   PMID:19073256   PMID:19105036   PMID:19114622  
PMID:19128145   PMID:19131500   PMID:19134349   PMID:19151114   PMID:19158438   PMID:19206164   PMID:19229472   PMID:19299182   PMID:19325145   PMID:19346738   PMID:19351609   PMID:19352306  
PMID:19379170   PMID:19380455   PMID:19401376   PMID:19420105   PMID:19436932   PMID:19438902   PMID:19449178   PMID:19453261   PMID:19502537   PMID:19508593   PMID:19523465   PMID:19539794  
PMID:19548455   PMID:19554506   PMID:19565568   PMID:19604388   PMID:19633200   PMID:19642016   PMID:19643942   PMID:19661483   PMID:19662974   PMID:19671825   PMID:19671856   PMID:19676147  
PMID:19705167   PMID:19730683   PMID:19775319   PMID:19779468   PMID:19784545   PMID:19787288   PMID:19801982   PMID:19896533   PMID:19900367   PMID:19907187   PMID:19913121   PMID:19922962  
PMID:19934266   PMID:20004120   PMID:20005786   PMID:20028464   PMID:20033478   PMID:20063037   PMID:20084381   PMID:20110921   PMID:20137703   PMID:20146170   PMID:20157786   PMID:20204532  
PMID:20205168   PMID:20205614   PMID:20224558   PMID:20231205   PMID:20237496   PMID:20333869   PMID:20339356   PMID:20416172   PMID:20448212   PMID:20534768   PMID:20548944   PMID:20554715  
PMID:20569643   PMID:20621297   PMID:20623670   PMID:20628086   PMID:20690034   PMID:20718662   PMID:20809534   PMID:20819596   PMID:20832449   PMID:20890036   PMID:20929997   PMID:20932948  
PMID:20942739   PMID:20960157   PMID:20961463   PMID:20970873   PMID:20974615   PMID:20974706   PMID:21074311   PMID:21094794   PMID:21216833   PMID:21251686   PMID:21255246   PMID:21259010  
PMID:21270110   PMID:21316442   PMID:21327451   PMID:21352301   PMID:21359671   PMID:21376149   PMID:21411255   PMID:21447702   PMID:21474331   PMID:21539822   PMID:21559440   PMID:21568931  
PMID:21643971   PMID:21660951   PMID:21678294   PMID:21678453   PMID:21679949   PMID:21734015   PMID:21738662   PMID:21823052   PMID:21868322   PMID:21903966   PMID:21913967   PMID:21938481  
PMID:21940840   PMID:21941412   PMID:21964949   PMID:21975354   PMID:21980299   PMID:21994215   PMID:22001124   PMID:22001292   PMID:22015178   PMID:22023625   PMID:22025323   PMID:22027240  
PMID:22034880   PMID:22079264   PMID:22079369   PMID:22119834   PMID:22120987   PMID:22172725   PMID:22176920   PMID:22178057   PMID:22185226   PMID:22202560   PMID:22207352   PMID:22214279  
PMID:22265272   PMID:22268274   PMID:22278426   PMID:22295097   PMID:22296645   PMID:22377704   PMID:22391059   PMID:22392486   PMID:22402034   PMID:22434650   PMID:22455689   PMID:22486966  
PMID:22490874   PMID:22496403   PMID:22504420   PMID:22516062   PMID:22546829   PMID:22556124   PMID:22567137   PMID:22584471   PMID:22634178   PMID:22638612   PMID:22660233   PMID:22664871  
PMID:22698523   PMID:22705116   PMID:22753650   PMID:22798246   PMID:22824048   PMID:22863720   PMID:22909822   PMID:22918704   PMID:22952959   PMID:22957004   PMID:22964478   PMID:22965192  
PMID:23018352   PMID:23030274   PMID:23070830   PMID:23176170   PMID:23178378   PMID:23183242   PMID:23190522   PMID:23211475   PMID:23219833   PMID:23267146   PMID:23271131   PMID:23277172  
PMID:23299915   PMID:23302066   PMID:23304691   PMID:23322328   PMID:23331792   PMID:23335067   PMID:23336103   PMID:23358109   PMID:23369128   PMID:23383690   PMID:23386104   PMID:23388484  
PMID:23437003   PMID:23440406   PMID:23457386   PMID:23490134   PMID:23521017   PMID:23531404   PMID:23547804   PMID:23549459   PMID:23619553   PMID:23695991   PMID:23702841   PMID:23710898  
PMID:23726804   PMID:23731710   PMID:23758931   PMID:23772656   PMID:23777975   PMID:23788300   PMID:23812001   PMID:23827649   PMID:23837846   PMID:23867796   PMID:23877020   PMID:23959668  
PMID:24058411   PMID:24067544   PMID:24074513   PMID:24126801   PMID:24130145   PMID:24228244   PMID:24249740   PMID:24277958   PMID:24280212   PMID:24283361   PMID:24307842   PMID:24361071  
PMID:24410296   PMID:24457406   PMID:24529565   PMID:24533937   PMID:24549600   PMID:24566391   PMID:24615112   PMID:24689950   PMID:24710939   PMID:24723620   PMID:24737508   PMID:24743232  
PMID:24755218   PMID:24758546   PMID:24769277   PMID:24780728   PMID:24785095   PMID:24810471   PMID:24827498   PMID:24867796   PMID:24886600   PMID:24945404   PMID:24975835   PMID:24976340  
PMID:24983306   PMID:24998520   PMID:25005034   PMID:25026506   PMID:25056244   PMID:25063075   PMID:25068378   PMID:25080503   PMID:25095658   PMID:25102365   PMID:25105978   PMID:25108083  
PMID:25138985   PMID:25177945   PMID:25181418   PMID:25184828   PMID:25190453   PMID:25212894   PMID:25218813   PMID:25240503   PMID:25256810   PMID:25259713   PMID:25270538   PMID:25323324  
PMID:25323794   PMID:25333856   PMID:25335447   PMID:25362655   PMID:25374442   PMID:25383958   PMID:25393853   PMID:25464125   PMID:25546658   PMID:25575458   PMID:25580430   PMID:25585925  
PMID:25603921   PMID:25609157   PMID:25618371   PMID:25636966   PMID:25679449   PMID:25724681   PMID:25738879   PMID:25744546   PMID:25748834   PMID:25810067   PMID:25854266   PMID:25912212  
PMID:25956608   PMID:25998045   PMID:26044709   PMID:26090754   PMID:26094891   PMID:26118194   PMID:26125863   PMID:26131575   PMID:26133738   PMID:26156285   PMID:26184866   PMID:26202809  
PMID:26216189   PMID:26218592   PMID:26220665   PMID:26260869   PMID:26261013   PMID:26351115   PMID:26400332   PMID:26438320   PMID:26446504   PMID:26459001   PMID:26494839   PMID:26504794  
PMID:26579581   PMID:26608463   PMID:26617755   PMID:26629528   PMID:26635910   PMID:26652270   PMID:26664786   PMID:26669972   PMID:26671549   PMID:26722486   PMID:26766771   PMID:26781475  
PMID:26798969   PMID:26847856   PMID:26913505   PMID:26924459   PMID:26942563   PMID:26982319   PMID:27015557   PMID:27016924   PMID:27028343   PMID:27068490   PMID:27072583   PMID:27111559  
PMID:27128817   PMID:27156396   PMID:27171030   PMID:27301430   PMID:27310953   PMID:27328677   PMID:27334353   PMID:27336899   PMID:27338002   PMID:27379348   PMID:27403809   PMID:27411457  
PMID:27503623   PMID:27614458   PMID:27639566   PMID:27684563   PMID:27764814   PMID:27771584   PMID:27809640   PMID:27828936   PMID:27855207   PMID:27859736   PMID:27862210   PMID:27893411  
PMID:27911913   PMID:27922673   PMID:27983911   PMID:27994198   PMID:28002811   PMID:28056805   PMID:28077433   PMID:28143606   PMID:28146138   PMID:28244588   PMID:28246602   PMID:28249772  
PMID:28252575   PMID:28260003   PMID:28260080   PMID:28385082   PMID:28428481   PMID:28429221   PMID:28464982   PMID:28488893   PMID:28496203   PMID:28593808   PMID:28614819   PMID:28676900  
PMID:28677166   PMID:28683789   PMID:28726980   PMID:28739719   PMID:28758134   PMID:28787318   PMID:28789654   PMID:28821297   PMID:28824302   PMID:28837646   PMID:28840836   PMID:28867452  
PMID:28904316   PMID:28931423   PMID:29052177   PMID:29077157   PMID:29120587   PMID:29204705   PMID:29253005   PMID:29297549   PMID:29308559   PMID:29313442   PMID:29336616   PMID:29407881  
PMID:29501268   PMID:29578045   PMID:29635231   PMID:29749489   PMID:29774992   PMID:29791169   PMID:29895074   PMID:29920500   PMID:29974642   PMID:29996796   PMID:30132286   PMID:30132289  
PMID:30182562   PMID:30188218   PMID:30266917   PMID:30284692   PMID:30348163   PMID:30369329   PMID:30425091   PMID:30447607   PMID:30496606   PMID:30562485   PMID:30562925   PMID:30572450  
PMID:30624097   PMID:30658955   PMID:30747085   PMID:30816098   PMID:30935608   PMID:30972968   PMID:30991288   PMID:31025334   PMID:31041888   PMID:31092428   PMID:31097613   PMID:31122190  
PMID:31157557   PMID:31206025   PMID:31209146   PMID:31212033   PMID:31217507   PMID:31292059   PMID:31292134   PMID:31292137   PMID:31315756   PMID:31486401   PMID:31546898   PMID:31639725  
PMID:31642412   PMID:31658533   PMID:31692972   PMID:31757570   PMID:31950864   PMID:31958462   PMID:31971101   PMID:32032675   PMID:32102511   PMID:32159708   PMID:32198488   PMID:32222535  
PMID:32259306   PMID:32284263   PMID:32338102   PMID:32398963   PMID:32418417   PMID:32442729   PMID:32483770   PMID:32694652   PMID:32721972   PMID:32807901   PMID:32814053   PMID:32873083  
PMID:32955093   PMID:32955941   PMID:32986917   PMID:33047116   PMID:33068383   PMID:33143325   PMID:33394132   PMID:33510348   PMID:33511706   PMID:33572979   PMID:33615520   PMID:33635235  
PMID:33768738   PMID:33773583   PMID:33813793   PMID:33817720   PMID:33961781   PMID:33967621   PMID:33989379   PMID:34086939   PMID:34099729   PMID:34173983   PMID:34182967   PMID:34186363  
PMID:34251978   PMID:34397809   PMID:34416336   PMID:34440966   PMID:34487291   PMID:34515523   PMID:34556709   PMID:34570303   PMID:34645448   PMID:34684610   PMID:34716467   PMID:34718621  
PMID:34728311   PMID:34752988   PMID:34758942   PMID:34777249   PMID:34846723   PMID:34938284   PMID:35215487   PMID:35345075   PMID:35412619   PMID:35438888   PMID:35463641   PMID:35463988  
PMID:35546224   PMID:35680906   PMID:35868414   PMID:35893092   PMID:35993046   PMID:36060948   PMID:36088403   PMID:36161625   PMID:36346787   PMID:36359766   PMID:36503538   PMID:36589815  
PMID:36639139   PMID:36675029   PMID:36768925   PMID:37026909   PMID:37165403   PMID:37328895   PMID:37532154   PMID:37691354   PMID:37838749   PMID:37937620   PMID:38015775   PMID:38097649  
PMID:38374135   PMID:38443806   PMID:38583439   PMID:38906326   PMID:39238192  


Genomics

Comparative Map Data
TNFRSF11B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388118,923,557 - 118,951,885 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8118,923,557 - 118,951,885 (-)EnsemblGRCh38hg38GRCh38
GRCh378119,935,796 - 119,964,124 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368120,004,977 - 120,033,564 (-)NCBINCBI36Build 36hg18NCBI36
Build 348120,004,977 - 120,033,492NCBI
Celera8116,124,073 - 116,152,621 (-)NCBICelera
Cytogenetic Map8q24.12NCBI
HuRef8115,263,331 - 115,291,874 (-)NCBIHuRef
CHM1_18119,976,820 - 120,005,398 (-)NCBICHM1_1
T2T-CHM13v2.08120,051,990 - 120,080,310 (-)NCBIT2T-CHM13v2.0
Tnfrsf11b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391554,114,014 - 54,141,700 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1554,114,015 - 54,141,880 (-)EnsemblGRCm39 Ensembl
GRCm381554,250,619 - 54,278,484 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1554,250,619 - 54,278,484 (-)EnsemblGRCm38mm10GRCm38
MGSCv371554,082,174 - 54,110,039 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361554,080,702 - 54,108,567 (-)NCBIMGSCv36mm8
Celera1555,801,719 - 55,829,545 (-)NCBICelera
Cytogenetic Map15D1NCBI
cM Map1521.15NCBI
Tnfrsf11b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8787,456,318 - 87,484,324 (-)NCBIGRCr8
mRatBN7.2785,566,520 - 85,594,526 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl785,566,520 - 85,594,538 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx787,463,913 - 87,491,923 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0789,665,094 - 89,693,104 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0789,470,571 - 89,498,581 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0793,798,580 - 93,826,586 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl793,798,545 - 93,826,665 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0794,436,612 - 94,464,618 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4790,606,424 - 90,634,431 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1790,640,654 - 90,668,661 (-)NCBI
Celera782,388,596 - 82,416,602 (-)NCBICelera
Cytogenetic Map7q32NCBI
Tnfrsf11b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541724,804,664 - 24,831,894 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541724,804,708 - 24,831,338 (-)NCBIChiLan1.0ChiLan1.0
TNFRSF11B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27136,349,949 - 136,380,083 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18111,861,966 - 111,890,819 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08115,614,778 - 115,643,387 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18118,134,305 - 118,162,422 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8118,134,305 - 118,162,422 (-)Ensemblpanpan1.1panPan2
TNFRSF11B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11318,155,765 - 18,183,263 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1318,156,367 - 18,183,444 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1318,157,696 - 18,185,164 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01318,475,888 - 18,503,357 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1318,475,887 - 18,503,320 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11318,206,469 - 18,233,953 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01318,302,728 - 18,330,220 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01318,533,442 - 18,560,917 (-)NCBIUU_Cfam_GSD_1.0
Tnfrsf11b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530320,145,169 - 20,172,626 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647027,571,270 - 27,599,089 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647027,571,263 - 27,598,725 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TNFRSF11B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl419,850,350 - 19,879,125 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1419,850,212 - 19,879,132 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2421,129,878 - 21,158,557 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TNFRSF11B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18113,520,711 - 113,549,370 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8113,520,596 - 113,548,936 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603926,748,455 - 26,777,113 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tnfrsf11b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476317,138,847 - 17,166,453 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476317,139,109 - 17,166,398 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TNFRSF11B
184 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
nsv513786 deletion Hyperphosphatasemia with bone disease [RCV000007383] Chr8:118920356..119017859 [GRCh38]
Chr8:119932595..120030098 [GRCh37]
Chr8:8q24		 pathogenic
NM_002546.4(TNFRSF11B):c.544_546del (p.Asp182del) deletion Hyperphosphatasemia with bone disease [RCV000007384] Chr8:118928784..118928786 [GRCh38]
Chr8:119941023..119941025 [GRCh37]
Chr8:8q24.12		 pathogenic
NM_002546.4(TNFRSF11B):c.966_969delinsCTT (p.Asp323fs) indel Hyperphosphatasemia with bone disease [RCV000007387] Chr8:118924611..118924614 [GRCh38]
Chr8:119936850..119936853 [GRCh37]
Chr8:8q24.12		 pathogenic
NM_002546.4(TNFRSF11B):c.260G>A (p.Cys87Tyr) single nucleotide variant Hyperphosphatasemia with bone disease [RCV000007385] Chr8:118933071 [GRCh38]
Chr8:119945310 [GRCh37]
Chr8:8q24.12		 pathogenic
NM_002546.4(TNFRSF11B):c.349T>C (p.Phe117Leu) single nucleotide variant Hyperphosphatasemia with bone disease [RCV000007386]|not provided [RCV001851721] Chr8:118932982 [GRCh38]
Chr8:119945221 [GRCh37]
Chr8:8q24.12		 pathogenic|uncertain significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3		 pathogenic
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 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 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 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21		 pathogenic
GRCh38/hg38 8q24.11-24.13(chr8:118059192-121574437)x1 copy number loss See cases [RCV000054304] Chr8:118059192..121574437 [GRCh38]
Chr8:119071431..122586677 [GRCh37]
Chr8:119140612..122655858 [NCBI36]
Chr8:8q24.11-24.13		 pathogenic
NM_002546.4(TNFRSF11B):c.194G>T (p.Cys65Phe) single nucleotide variant not provided [RCV000171419] Chr8:118933137 [GRCh38]
Chr8:119945376 [GRCh37]
Chr8:8q24.12		 likely pathogenic
Single allele single nucleotide variant not provided [RCV000171536] Chr8:119936931 [GRCh37]
Chr8:8q24.12		 likely pathogenic
NM_002546.4(TNFRSF11B):c.401-5T>C single nucleotide variant Hyperphosphatasemia with bone disease [RCV000299224]|not provided [RCV001657954]|not specified [RCV000177160] Chr8:118928934 [GRCh38]
Chr8:119941173 [GRCh37]
Chr8:8q24.12		 benign
NM_002546.4(TNFRSF11B):c.885T>A (p.Leu295=) single nucleotide variant Hyperphosphatasemia with bone disease [RCV000303582]|not provided [RCV000969993]|not specified [RCV000178868] Chr8:118924695 [GRCh38]
Chr8:119936934 [GRCh37]
Chr8:8q24.12		 benign|likely benign|uncertain significance
NC_000008.11:g.(118690580_118696647)_(118950613_118950848)del deletion Hyperphosphatasemia with bone disease [RCV000190836] Chr8:118696647..118950613 [GRCh38]
Chr8:8q24.12		 pathogenic
NM_002546.4(TNFRSF11B):c.226A>C (p.Thr76Pro) single nucleotide variant Hyperphosphatasemia with bone disease [RCV000190837] Chr8:118933105 [GRCh38]
Chr8:119945344 [GRCh37]
Chr8:8q24.12		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1 copy number loss See cases [RCV000135291] Chr8:113418060..120975305 [GRCh38]
Chr8:114430289..121987545 [GRCh37]
Chr8:114499465..122056726 [NCBI36]
Chr8:8q23.3-24.12		 pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1 copy number loss See cases [RCV000135819] Chr8:112528342..120083041 [GRCh38]
Chr8:113540571..121095280 [GRCh37]
Chr8:113609747..121164461 [NCBI36]
Chr8:8q23.3-24.12		 pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23		 pathogenic|likely pathogenic
GRCh38/hg38 8q24.12(chr8:118899704-119750010)x1 copy number loss See cases [RCV000137740] Chr8:118899704..119750010 [GRCh38]
Chr8:119911943..120762250 [GRCh37]
Chr8:119981124..120831431 [NCBI36]
Chr8:8q24.12		 likely benign
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 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 8q23.3-24.13(chr8:114560780-122594102)x1 copy number loss See cases [RCV000139027] Chr8:114560780..122594102 [GRCh38]
Chr8:115573009..123606341 [GRCh37]
Chr8:115642185..123675522 [NCBI36]
Chr8:8q23.3-24.13		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.12(chr8:118626991-119703035)x3 copy number gain See cases [RCV000139886] Chr8:118626991..119703035 [GRCh38]
Chr8:119639230..120715275 [GRCh37]
Chr8:119708411..120784456 [NCBI36]
Chr8:8q24.12		 uncertain significance
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 8q23.3-24.13(chr8:113933305-122621741)x1 copy number loss See cases [RCV000140680] Chr8:113933305..122621741 [GRCh38]
Chr8:114945534..123633980 [GRCh37]
Chr8:115014710..123703161 [NCBI36]
Chr8:8q23.3-24.13		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 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 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely 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 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 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
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
NM_002546.4(TNFRSF11B):c.148C>A (p.Leu50Ile) single nucleotide variant Inborn genetic diseases [RCV004020084]|not provided [RCV000175726] Chr8:118933183 [GRCh38]
Chr8:119945422 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.433T>G (p.Cys145Gly) single nucleotide variant not provided [RCV000177161] Chr8:118928897 [GRCh38]
Chr8:119941136 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.400+4C>T single nucleotide variant Hyperphosphatasemia with bone disease [RCV000332969]|not provided [RCV002058121]|not specified [RCV000246061] Chr8:118932927 [GRCh38]
Chr8:119945166 [GRCh37]
Chr8:8q24.12		 benign|likely benign
NM_002546.4(TNFRSF11B):c.768A>G (p.Leu256=) single nucleotide variant Hyperphosphatasemia with bone disease [RCV000395332]|not provided [RCV002058122]|not specified [RCV000253933] Chr8:118926543 [GRCh38]
Chr8:119938782 [GRCh37]
Chr8:8q24.12		 benign|likely benign
NM_002546.4(TNFRSF11B):c.9C>G (p.Asn3Lys) single nucleotide variant Hyperphosphatasemia with bone disease [RCV000291754]|not provided [RCV001651170]|not specified [RCV000250490] Chr8:118951813 [GRCh38]
Chr8:119964052 [GRCh37]
Chr8:8q24.12		 benign
NM_002546.4(TNFRSF11B):c.817+8A>C single nucleotide variant Hyperphosphatasemia with bone disease [RCV000339863]|not provided [RCV002058123]|not specified [RCV000245948] Chr8:118926486 [GRCh38]
Chr8:119938725 [GRCh37]
Chr8:8q24.12		 benign|likely benign
NM_002546.4(TNFRSF11B):c.699C>A (p.Asn233Lys) single nucleotide variant Hyperphosphatasemia with bone disease [RCV000395330]|Inborn genetic diseases [RCV002523628] Chr8:118926612 [GRCh38]
Chr8:119938851 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.234C>T (p.Asp78=) single nucleotide variant Hyperphosphatasemia with bone disease [RCV000371217]|not provided [RCV000729123] Chr8:118933097 [GRCh38]
Chr8:119945336 [GRCh37]
Chr8:8q24.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_002546.4(TNFRSF11B):c.31-7C>T single nucleotide variant Hyperphosphatasemia with bone disease [RCV000269644]|not provided [RCV002058699] Chr8:118933307 [GRCh38]
Chr8:119945546 [GRCh37]
Chr8:8q24.12		 benign|likely benign
NM_002546.3(TNFRSF11B):c.-204C>T single nucleotide variant Hyperphosphatasemia with bone disease [RCV000285955]|not provided [RCV004696055] Chr8:118952025 [GRCh38]
Chr8:119964264 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.*67C>T single nucleotide variant Hyperphosphatasemia with bone disease [RCV000348056] Chr8:118924307 [GRCh38]
Chr8:119936546 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.3(TNFRSF11B):c.-284C>T single nucleotide variant Hyperphosphatasemia with bone disease [RCV000337356] Chr8:118952105 [GRCh38]
Chr8:119964344 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.30+15C>T single nucleotide variant Hyperphosphatasemia with bone disease [RCV000326940]|not provided [RCV001613209] Chr8:118951777 [GRCh38]
Chr8:119964016 [GRCh37]
Chr8:8q24.12		 benign
NM_002546.4(TNFRSF11B):c.*545T>C single nucleotide variant Hyperphosphatasemia with bone disease [RCV000351190] Chr8:118923829 [GRCh38]
Chr8:119936068 [GRCh37]
Chr8:8q24.12		 likely benign|uncertain significance
NM_002546.4(TNFRSF11B):c.714G>A (p.Glu238=) single nucleotide variant Hyperphosphatasemia with bone disease [RCV000304949]|not provided [RCV000956667] Chr8:118926597 [GRCh38]
Chr8:119938836 [GRCh37]
Chr8:8q24.12		 benign|likely benign
NM_002546.4(TNFRSF11B):c.400+5G>A single nucleotide variant Hyperphosphatasemia with bone disease [RCV000275560] Chr8:118932926 [GRCh38]
Chr8:119945165 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.700G>A (p.Ala234Thr) single nucleotide variant Hyperphosphatasemia with bone disease [RCV000355200]|not provided [RCV001861316] Chr8:118926611 [GRCh38]
Chr8:119938850 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.*367G>A single nucleotide variant Hyperphosphatasemia with bone disease [RCV000382499]|not provided [RCV004712484] Chr8:118924007 [GRCh38]
Chr8:119936246 [GRCh37]
Chr8:8q24.12		 benign
NM_002546.4(TNFRSF11B):c.1150T>C (p.Leu384=) single nucleotide variant Hyperphosphatasemia with bone disease [RCV000402907]|not provided [RCV002058698] Chr8:118924430 [GRCh38]
Chr8:119936669 [GRCh37]
Chr8:8q24.12		 benign
NM_002546.3(TNFRSF11B):c.-223C>T single nucleotide variant Hyperphosphatasemia with bone disease [RCV000404609]|not provided [RCV001636997] Chr8:118952044 [GRCh38]
Chr8:119964283 [GRCh37]
Chr8:8q24.12		 benign
NM_002546.4(TNFRSF11B):c.21C>T (p.Cys7=) single nucleotide variant Hyperphosphatasemia with bone disease [RCV000383882]|not provided [RCV000899781] Chr8:118951801 [GRCh38]
Chr8:119964040 [GRCh37]
Chr8:8q24.12		 benign|likely benign|uncertain significance
NM_002546.4(TNFRSF11B):c.*682T>C single nucleotide variant Hyperphosphatasemia with bone disease [RCV000386079] Chr8:118923692 [GRCh38]
Chr8:119935931 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.3(TNFRSF11B):c.-257G>T single nucleotide variant Hyperphosphatasemia with bone disease [RCV000279990] Chr8:118952078 [GRCh38]
Chr8:119964317 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.*583T>A single nucleotide variant Hyperphosphatasemia with bone disease [RCV000296272]|not provided [RCV004712483] Chr8:118923791 [GRCh38]
Chr8:119936030 [GRCh37]
Chr8:8q24.12		 benign|likely benign
NM_002546.3(TNFRSF11B):c.-311G>T single nucleotide variant Hyperphosphatasemia with bone disease [RCV000393322] Chr8:118952132 [GRCh38]
Chr8:119964371 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.400+15G>A single nucleotide variant Hyperphosphatasemia with bone disease [RCV000367958] Chr8:118932916 [GRCh38]
Chr8:119945155 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.729A>T (p.Gln243His) single nucleotide variant Hyperphosphatasemia with bone disease [RCV001165306]|not provided [RCV000270964] Chr8:118926582 [GRCh38]
Chr8:119938821 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.69G>A (p.Thr23=) single nucleotide variant TNFRSF11B-related disorder [RCV003949928]|not provided [RCV000344691] Chr8:118933262 [GRCh38]
Chr8:119945501 [GRCh37]
Chr8:8q24.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002546.4(TNFRSF11B):c.96C>T (p.Asp32=) single nucleotide variant Hyperphosphatasemia with bone disease [RCV001163315]|not provided [RCV000352033] Chr8:118933235 [GRCh38]
Chr8:119945474 [GRCh37]
Chr8:8q24.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_002546.3(TNFRSF11B):c.-99G>A single nucleotide variant Hyperphosphatasemia with bone disease [RCV000320990] Chr8:118951920 [GRCh38]
Chr8:119964159 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.*207C>G single nucleotide variant Hyperphosphatasemia with bone disease [RCV000288168] Chr8:118924167 [GRCh38]
Chr8:119936406 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.3(TNFRSF11B):c.-215C>T single nucleotide variant Hyperphosphatasemia with bone disease [RCV000343006] Chr8:118952036 [GRCh38]
Chr8:119964275 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.3(TNFRSF11B):c.-191C>G single nucleotide variant Hyperphosphatasemia with bone disease [RCV000378072] Chr8:118952012 [GRCh38]
Chr8:119964251 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.321C>G (p.Cys107Trp) single nucleotide variant not provided [RCV000730051] Chr8:118933010 [GRCh38]
Chr8:119945249 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh37/hg19 8q24.12(chr8:119936372-120651018)x3 copy number gain See cases [RCV000447347] Chr8:119936372..120651018 [GRCh37]
Chr8:8q24.12		 uncertain significance
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 8q23.1-24.12(chr8:107032887-120742018)x1 copy number loss See cases [RCV000448650] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
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 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3		 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 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_002546.4(TNFRSF11B):c.315C>T (p.Cys105=) single nucleotide variant not provided [RCV000594590] Chr8:118933016 [GRCh38]
Chr8:119945255 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3		 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 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13		 pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21		 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
NM_002546.4(TNFRSF11B):c.558C>T (p.Ser186=) single nucleotide variant Hyperphosphatasemia with bone disease [RCV001158578]|not provided [RCV000947128] Chr8:118928772 [GRCh38]
Chr8:119941011 [GRCh37]
Chr8:8q24.12		 benign
NM_002546.4(TNFRSF11B):c.310G>A (p.Val104Met) single nucleotide variant Hyperphosphatasemia with bone disease [RCV001161797]|TNFRSF11B-related disorder [RCV003972974]|not provided [RCV000977378] Chr8:118933021 [GRCh38]
Chr8:119945260 [GRCh37]
Chr8:8q24.12		 benign
NM_002546.4(TNFRSF11B):c.186C>T (p.Cys62=) single nucleotide variant TNFRSF11B-related disorder [RCV004758741]|not provided [RCV000885658] Chr8:118933145 [GRCh38]
Chr8:119945384 [GRCh37]
Chr8:8q24.12		 benign
NM_002546.4(TNFRSF11B):c.957C>T (p.Cys319=) single nucleotide variant not provided [RCV000919274] Chr8:118924623 [GRCh38]
Chr8:119936862 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.840C>T (p.Ser280=) single nucleotide variant Hyperphosphatasemia with bone disease [RCV001165305]|not provided [RCV000937791] Chr8:118924740 [GRCh38]
Chr8:119936979 [GRCh37]
Chr8:8q24.12		 likely benign|uncertain significance
NM_002546.4(TNFRSF11B):c.853A>G (p.Ile285Val) single nucleotide variant Hyperphosphatasemia with bone disease [RCV001165302]|Inborn genetic diseases [RCV003339521]|not provided [RCV001859060] Chr8:118924727 [GRCh38]
Chr8:119936966 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.720A>G (p.Ile240Met) single nucleotide variant Hyperphosphatasemia with bone disease [RCV001165307] Chr8:118926591 [GRCh38]
Chr8:119938830 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh37/hg19 8q24.11-24.12(chr8:118466438-119966333)x1 copy number loss not provided [RCV001006135] Chr8:118466438..119966333 [GRCh37]
Chr8:8q24.11-24.12		 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
NM_002546.4(TNFRSF11B):c.997C>T (p.Arg333Ter) single nucleotide variant Hyperphosphatasemia with bone disease [RCV000988113] Chr8:118924583 [GRCh38]
Chr8:119936822 [GRCh37]
Chr8:8q24.12		 pathogenic
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
NM_002546.4(TNFRSF11B):c.884T>C (p.Leu295Pro) single nucleotide variant Hyperphosphatasemia with bone disease [RCV001007588] Chr8:118924696 [GRCh38]
Chr8:119936935 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.332G>A (p.Arg111His) single nucleotide variant Hyperphosphatasemia with bone disease [RCV001161796]|not provided [RCV001882509] Chr8:118932999 [GRCh38]
Chr8:119945238 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.*349T>A single nucleotide variant Hyperphosphatasemia with bone disease [RCV001163206] Chr8:118924025 [GRCh38]
Chr8:119936264 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.104C>A (p.Thr35Asn) single nucleotide variant Hyperphosphatasemia with bone disease [RCV001163314]|Inborn genetic diseases [RCV002559563]|not provided [RCV001882519] Chr8:118933227 [GRCh38]
Chr8:119945466 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.621C>T (p.Phe207=) single nucleotide variant Hyperphosphatasemia with bone disease [RCV001158577]|not provided [RCV003718371] Chr8:118926690 [GRCh38]
Chr8:119938929 [GRCh37]
Chr8:8q24.12		 likely benign|uncertain significance
NC_000008.10:g.(?_118811951)_(120844804_?)dup duplication not provided [RCV003107712] Chr8:118811951..120844804 [GRCh37]
Chr8:8q24.11-24.12		 uncertain significance
NC_000008.10:g.(?_117859739)_(120844804_?)del deletion not provided [RCV003107713] Chr8:117859739..120844804 [GRCh37]
Chr8:8q24.11-24.12		 pathogenic
NM_002546.4(TNFRSF11B):c.992T>C (p.Leu331Ser) single nucleotide variant Inborn genetic diseases [RCV003275435] Chr8:118924588 [GRCh38]
Chr8:119936827 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.841G>A (p.Val281Met) single nucleotide variant Hyperphosphatasemia with bone disease [RCV001165304]|not provided [RCV000894646] Chr8:118924739 [GRCh38]
Chr8:119936978 [GRCh37]
Chr8:8q24.12		 benign
NM_002546.4(TNFRSF11B):c.855T>C (p.Ile285=) single nucleotide variant not provided [RCV000940559] Chr8:118924725 [GRCh38]
Chr8:119936964 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.705G>A (p.Glu235=) single nucleotide variant not provided [RCV000910008] Chr8:118926606 [GRCh38]
Chr8:119938845 [GRCh37]
Chr8:8q24.12		 likely benign
GRCh37/hg19 8q24.11-24.12(chr8:118645068-121684174)x1 copy number loss not provided [RCV002472649] Chr8:118645068..121684174 [GRCh37]
Chr8:8q24.11-24.12		 pathogenic
NM_002546.4(TNFRSF11B):c.*609G>A single nucleotide variant Hyperphosphatasemia with bone disease [RCV001161686] Chr8:118923765 [GRCh38]
Chr8:119936004 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.*505A>G single nucleotide variant Hyperphosphatasemia with bone disease [RCV001161687] Chr8:118923869 [GRCh38]
Chr8:119936108 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.*412A>G single nucleotide variant Hyperphosphatasemia with bone disease [RCV001161690] Chr8:118923962 [GRCh38]
Chr8:119936201 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1 copy number loss not provided [RCV001006131] Chr8:111514791..123192373 [GRCh37]
Chr8:8q23.2-24.13		 pathogenic
NM_002546.4(TNFRSF11B):c.277G>A (p.Val93Ile) single nucleotide variant Hyperphosphatasemia with bone disease [RCV001161799]|Inborn genetic diseases [RCV004678973]|not provided [RCV001882510] Chr8:118933054 [GRCh38]
Chr8:119945293 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.139G>A (p.Gly47Ser) single nucleotide variant Hyperphosphatasemia with bone disease [RCV001161800] Chr8:118933192 [GRCh38]
Chr8:119945431 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.*213C>T single nucleotide variant Hyperphosphatasemia with bone disease [RCV001163207] Chr8:118924161 [GRCh38]
Chr8:119936400 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.*166C>G single nucleotide variant Hyperphosphatasemia with bone disease [RCV001163208] Chr8:118924208 [GRCh38]
Chr8:119936447 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.*799G>A single nucleotide variant Hyperphosphatasemia with bone disease [RCV001158476] Chr8:118923575 [GRCh38]
Chr8:119935814 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.30+252GA[9] microsatellite not provided [RCV001691394] Chr8:118951521..118951522 [GRCh38]
Chr8:119963760..119963761 [GRCh37]
Chr8:8q24.12		 benign
NM_002546.4(TNFRSF11B):c.401-109T>C single nucleotide variant not provided [RCV001725016] Chr8:118929038 [GRCh38]
Chr8:119941277 [GRCh37]
Chr8:8q24.12		 benign
NM_002546.4(TNFRSF11B):c.-10G>A single nucleotide variant Hyperphosphatasemia with bone disease [RCV001163316] Chr8:118951831 [GRCh38]
Chr8:119964070 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.308G>A (p.Arg103His) single nucleotide variant Hyperphosphatasemia with bone disease [RCV001161798]|not provided [RCV002032492] Chr8:118933023 [GRCh38]
Chr8:119945262 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.841G>T (p.Val281Leu) single nucleotide variant Hyperphosphatasemia with bone disease [RCV001165303]|not provided [RCV002558605] Chr8:118924739 [GRCh38]
Chr8:119936978 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.*487T>C single nucleotide variant Hyperphosphatasemia with bone disease [RCV001161688] Chr8:118923887 [GRCh38]
Chr8:119936126 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.*463T>A single nucleotide variant Hyperphosphatasemia with bone disease [RCV001161689] Chr8:118923911 [GRCh38]
Chr8:119936150 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NC_000008.10:g.(?_119936613)_(119964060_?)del deletion not provided [RCV001390222] Chr8:119936613..119964060 [GRCh37]
Chr8:8q24.12		 pathogenic
NM_002546.4(TNFRSF11B):c.400+255dup duplication not provided [RCV001540030] Chr8:118932661..118932662 [GRCh38]
Chr8:119944900..119944901 [GRCh37]
Chr8:8q24.12		 benign
NM_002546.4(TNFRSF11B):c.309C>T (p.Arg103=) single nucleotide variant not provided [RCV001988167] Chr8:118933022 [GRCh38]
Chr8:119945261 [GRCh37]
Chr8:8q24.12		 likely benign|uncertain significance
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018) copy number loss not specified [RCV002053793] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_002546.4(TNFRSF11B):c.935T>C (p.Ile312Thr) single nucleotide variant not provided [RCV002003170] Chr8:118924645 [GRCh38]
Chr8:119936884 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.86T>C (p.Leu29Pro) single nucleotide variant Inborn genetic diseases [RCV002554280]|not provided [RCV001893462] Chr8:118933245 [GRCh38]
Chr8:119945484 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.28G>A (p.Val10Met) single nucleotide variant Inborn genetic diseases [RCV004968324]|not provided [RCV002044467] Chr8:118951794 [GRCh38]
Chr8:119964033 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh37/hg19 8q24.12(chr8:119933300-120031575)x1 copy number loss not provided [RCV001827669] Chr8:119933300..120031575 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.724C>T (p.Arg242Trp) single nucleotide variant Inborn genetic diseases [RCV003355749]|not provided [RCV001986852] Chr8:118926587 [GRCh38]
Chr8:119938826 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.1026G>C (p.Leu342Phe) single nucleotide variant Hyperphosphatasemia with bone disease [RCV005038425]|not provided [RCV001886326] Chr8:118924554 [GRCh38]
Chr8:119936793 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.559G>A (p.Gly187Arg) single nucleotide variant not provided [RCV001981900] Chr8:118928771 [GRCh38]
Chr8:119941010 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.1205A>T (p.Ter402Leu) single nucleotide variant not provided [RCV001942035] Chr8:118924375 [GRCh38]
Chr8:119936614 [GRCh37]
Chr8:8q24.12		 pathogenic
NM_002546.4(TNFRSF11B):c.256G>A (p.Val86Met) single nucleotide variant Inborn genetic diseases [RCV004041610]|not provided [RCV001887520] Chr8:118933075 [GRCh38]
Chr8:119945314 [GRCh37]
Chr8:8q24.12		 uncertain significance
NC_000008.10:g.(?_116426251)_(120844804_?)del deletion Trichorhinophalangeal syndrome, type III [RCV004583270] Chr8:116426251..120844804 [GRCh37]
Chr8:8q23.3-24.12		 pathogenic
NM_002546.4(TNFRSF11B):c.1076A>C (p.Lys359Thr) single nucleotide variant not provided [RCV001936368] Chr8:118924504 [GRCh38]
Chr8:119936743 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.47T>C (p.Ile16Thr) single nucleotide variant not provided [RCV001936897] Chr8:118933284 [GRCh38]
Chr8:119945523 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.1102A>T (p.Thr368Ser) single nucleotide variant Inborn genetic diseases [RCV002608100]|not provided [RCV002012758] Chr8:118924478 [GRCh38]
Chr8:119936717 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.946A>G (p.Ile316Val) single nucleotide variant not provided [RCV001935327] Chr8:118924634 [GRCh38]
Chr8:119936873 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.837C>G (p.Asn279Lys) single nucleotide variant not provided [RCV001989032] Chr8:118924743 [GRCh38]
Chr8:119936982 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.812T>C (p.Ile271Thr) single nucleotide variant Inborn genetic diseases [RCV004038924]|not provided [RCV002047315] Chr8:118926499 [GRCh38]
Chr8:119938738 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.97G>A (p.Glu33Lys) single nucleotide variant Hyperphosphatasemia with bone disease [RCV003333192]|not provided [RCV001923597] Chr8:118933234 [GRCh38]
Chr8:119945473 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.187G>A (p.Ala63Thr) single nucleotide variant not provided [RCV002018240] Chr8:118933144 [GRCh38]
Chr8:119945383 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.181G>A (p.Val61Met) single nucleotide variant Inborn genetic diseases [RCV003289388]|not provided [RCV002016965] Chr8:118933150 [GRCh38]
Chr8:119945389 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.30+8_30+10dup duplication not provided [RCV002128149] Chr8:118951781..118951782 [GRCh38]
Chr8:119964020..119964021 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.593-17T>C single nucleotide variant not provided [RCV002112208] Chr8:118926735 [GRCh38]
Chr8:119938974 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.401-5_401-4delinsCT indel not provided [RCV002125905] Chr8:118928933..118928934 [GRCh38]
Chr8:119941172..119941173 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.818-11G>C single nucleotide variant not provided [RCV002114662] Chr8:118924773 [GRCh38]
Chr8:119937012 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.255C>T (p.Pro85=) single nucleotide variant not provided [RCV002190546] Chr8:118933076 [GRCh38]
Chr8:119945315 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.252C>T (p.Ser84=) single nucleotide variant not provided [RCV002150090] Chr8:118933079 [GRCh38]
Chr8:119945318 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.699C>T (p.Asn233=) single nucleotide variant not provided [RCV002215629] Chr8:118926612 [GRCh38]
Chr8:119938851 [GRCh37]
Chr8:8q24.12		 benign
NM_002546.4(TNFRSF11B):c.483A>G (p.Arg161=) single nucleotide variant not provided [RCV002212440] Chr8:118928847 [GRCh38]
Chr8:119941086 [GRCh37]
Chr8:8q24.12		 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_002546.4(TNFRSF11B):c.489C>T (p.His163=) single nucleotide variant not provided [RCV002179731] Chr8:118928841 [GRCh38]
Chr8:119941080 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.603G>A (p.Leu201=) single nucleotide variant not provided [RCV002084040] Chr8:118926708 [GRCh38]
Chr8:119938947 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.648G>A (p.Thr216=) single nucleotide variant not provided [RCV002143172] Chr8:118926663 [GRCh38]
Chr8:119938902 [GRCh37]
Chr8:8q24.12		 likely benign
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NC_000008.10:g.(?_117647788)_(120797526_?)dup duplication Multiple congenital exostosis [RCV003119346] Chr8:117647788..120797526 [GRCh37]
Chr8:8q23.3-24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.605G>A (p.Cys202Tyr) single nucleotide variant Connective tissue disorder [RCV002278842] Chr8:118926706 [GRCh38]
Chr8:119938945 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q24.11-24.12(chr8:118492577-121075880)x3 copy number gain not provided [RCV002474721] Chr8:118492577..121075880 [GRCh37]
Chr8:8q24.11-24.12		 uncertain significance
GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1 copy number loss not provided [RCV002474553] Chr8:112234557..133668379 [GRCh37]
Chr8:8q23.3-24.22		 pathogenic
NM_002546.4(TNFRSF11B):c.823G>C (p.Asp275His) single nucleotide variant not provided [RCV002306016] Chr8:118924757 [GRCh38]
Chr8:119936996 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.613G>A (p.Ala205Thr) single nucleotide variant not provided [RCV002305372] Chr8:118926698 [GRCh38]
Chr8:119938937 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.584G>T (p.Cys195Phe) single nucleotide variant not provided [RCV002302196] Chr8:118928746 [GRCh38]
Chr8:119940985 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.820A>G (p.Ile274Val) single nucleotide variant not provided [RCV002306065] Chr8:118924760 [GRCh38]
Chr8:119936999 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.104C>T (p.Thr35Ile) single nucleotide variant not provided [RCV002298982] Chr8:118933227 [GRCh38]
Chr8:119945466 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.1102A>G (p.Thr368Ala) single nucleotide variant Inborn genetic diseases [RCV002840268]|not provided [RCV003738318] Chr8:118924478 [GRCh38]
Chr8:119936717 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.1192A>C (p.Ile398Leu) single nucleotide variant not provided [RCV002776319] Chr8:118924388 [GRCh38]
Chr8:119936627 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.769T>A (p.Trp257Arg) single nucleotide variant not provided [RCV002816509] Chr8:118926542 [GRCh38]
Chr8:119938781 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.607G>C (p.Glu203Gln) single nucleotide variant Inborn genetic diseases [RCV002902835] Chr8:118926704 [GRCh38]
Chr8:119938943 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.147C>T (p.Tyr49=) single nucleotide variant not provided [RCV002882042] Chr8:118933184 [GRCh38]
Chr8:119945423 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.1166T>C (p.Ile389Thr) single nucleotide variant not provided [RCV002861639] Chr8:118924414 [GRCh38]
Chr8:119936653 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.297C>T (p.Arg99=) single nucleotide variant not provided [RCV003034476] Chr8:118933034 [GRCh38]
Chr8:119945273 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.1140G>C (p.Leu380Phe) single nucleotide variant not provided [RCV003014762] Chr8:118924440 [GRCh38]
Chr8:119936679 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.1097A>C (p.Lys366Thr) single nucleotide variant Inborn genetic diseases [RCV002840267]|not provided [RCV003738317] Chr8:118924483 [GRCh38]
Chr8:119936722 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.331C>A (p.Arg111Ser) single nucleotide variant Inborn genetic diseases [RCV004064846]|not provided [RCV002776463] Chr8:118933000 [GRCh38]
Chr8:119945239 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.25_28dup (p.Val10fs) duplication not provided [RCV003037306] Chr8:118951793..118951794 [GRCh38]
Chr8:119964032..119964033 [GRCh37]
Chr8:8q24.12		 pathogenic
NM_002546.4(TNFRSF11B):c.631G>C (p.Val211Leu) single nucleotide variant not provided [RCV002696092] Chr8:118926680 [GRCh38]
Chr8:119938919 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.592+13C>G single nucleotide variant not provided [RCV002740047] Chr8:118928725 [GRCh38]
Chr8:119940964 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.475C>T (p.Pro159Ser) single nucleotide variant not provided [RCV002696027] Chr8:118928855 [GRCh38]
Chr8:119941094 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.542A>T (p.His181Leu) single nucleotide variant Inborn genetic diseases [RCV004073292]|not provided [RCV003080791] Chr8:118928788 [GRCh38]
Chr8:119941027 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.30+11G>A single nucleotide variant not provided [RCV002735483] Chr8:118951781 [GRCh38]
Chr8:119964020 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.127A>G (p.Lys43Glu) single nucleotide variant Inborn genetic diseases [RCV002911447] Chr8:118933204 [GRCh38]
Chr8:119945443 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.461C>T (p.Thr154Met) single nucleotide variant not provided [RCV002952769] Chr8:118928869 [GRCh38]
Chr8:119941108 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.909G>A (p.Pro303=) single nucleotide variant not provided [RCV002621096] Chr8:118924671 [GRCh38]
Chr8:119936910 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.30+16A>G single nucleotide variant not provided [RCV002805877] Chr8:118951776 [GRCh38]
Chr8:119964015 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.31-5_31-3del deletion not provided [RCV002575778] Chr8:118933303..118933305 [GRCh38]
Chr8:119945542..119945544 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.1111T>G (p.Phe371Val) single nucleotide variant not provided [RCV003058966] Chr8:118924469 [GRCh38]
Chr8:119936708 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.962C>T (p.Pro321Leu) single nucleotide variant not provided [RCV003007904] Chr8:118924618 [GRCh38]
Chr8:119936857 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.543C>T (p.His181=) single nucleotide variant not provided [RCV003086073] Chr8:118928787 [GRCh38]
Chr8:119941026 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.334T>C (p.Tyr112His) single nucleotide variant Inborn genetic diseases [RCV004963445]|not provided [RCV003088856] Chr8:118932997 [GRCh38]
Chr8:119945236 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.64G>A (p.Glu22Lys) single nucleotide variant not provided [RCV003045074] Chr8:118933267 [GRCh38]
Chr8:119945506 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.912A>C (p.Gly304=) single nucleotide variant not provided [RCV002580417] Chr8:118924668 [GRCh38]
Chr8:119936907 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.331C>T (p.Arg111Cys) single nucleotide variant not provided [RCV003072671] Chr8:118933000 [GRCh38]
Chr8:119945239 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.1002A>G (p.Ile334Met) single nucleotide variant not provided [RCV002634733] Chr8:118924578 [GRCh38]
Chr8:119936817 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.797T>C (p.Ile266Thr) single nucleotide variant not provided [RCV002658126] Chr8:118926514 [GRCh38]
Chr8:119938753 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.613G>T (p.Ala205Ser) single nucleotide variant not provided [RCV003070735] Chr8:118926698 [GRCh38]
Chr8:119938937 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.709G>A (p.Val237Ile) single nucleotide variant not provided [RCV002943404] Chr8:118926602 [GRCh38]
Chr8:119938841 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3 copy number gain Neurodevelopmental disorder [RCV003327615] Chr8:115586904..135607135 [GRCh38]
Chr8:8q23.3-24.23		 pathogenic
NM_002546.4(TNFRSF11B):c.439G>C (p.Asp147His) single nucleotide variant Inborn genetic diseases [RCV003280983] Chr8:118928891 [GRCh38]
Chr8:119941130 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.897G>A (p.Met299Ile) single nucleotide variant Inborn genetic diseases [RCV003280984] Chr8:118924683 [GRCh38]
Chr8:119936922 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.380G>A (p.Gly127Glu) single nucleotide variant Inborn genetic diseases [RCV003203804] Chr8:118932951 [GRCh38]
Chr8:119945190 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1 copy number loss Exostoses, multiple, type 1 [RCV003329505] Chr8:118185471..126635744 [GRCh37]
Chr8:8q24.11-24.13		 pathogenic
NM_002546.4(TNFRSF11B):c.276C>T (p.Tyr92=) single nucleotide variant not provided [RCV003826656] Chr8:118933055 [GRCh38]
Chr8:119945294 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.1109G>A (p.Arg370Lys) single nucleotide variant not provided [RCV003875455] Chr8:118924471 [GRCh38]
Chr8:119936710 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.653A>C (p.Asn218Thr) single nucleotide variant not provided [RCV003825364] Chr8:118926658 [GRCh38]
Chr8:119938897 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.886C>T (p.Arg296Cys) single nucleotide variant not provided [RCV003546203] Chr8:118924694 [GRCh38]
Chr8:119936933 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.592+7A>G single nucleotide variant not provided [RCV003714488] Chr8:118928731 [GRCh38]
Chr8:119940970 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.78A>G (p.Pro26=) single nucleotide variant not provided [RCV003662404] Chr8:118933253 [GRCh38]
Chr8:119945492 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.544G>A (p.Asp182Asn) single nucleotide variant not provided [RCV003854389] Chr8:118928786 [GRCh38]
Chr8:119941025 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.412C>T (p.Arg138Ter) single nucleotide variant not provided [RCV003703519] Chr8:118928918 [GRCh38]
Chr8:119941157 [GRCh37]
Chr8:8q24.12		 pathogenic
NM_002546.4(TNFRSF11B):c.333C>T (p.Arg111=) single nucleotide variant not provided [RCV003839178] Chr8:118932998 [GRCh38]
Chr8:119945237 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.965G>C (p.Ser322Thr) single nucleotide variant not provided [RCV003667769] Chr8:118924615 [GRCh38]
Chr8:119936854 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.103A>G (p.Thr35Ala) single nucleotide variant not provided [RCV003548498] Chr8:118933228 [GRCh38]
Chr8:119945467 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.1102A>C (p.Thr368Pro) single nucleotide variant not provided [RCV003861397] Chr8:118924478 [GRCh38]
Chr8:119936717 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.744A>G (p.Glu248=) single nucleotide variant not provided [RCV003840962] Chr8:118926567 [GRCh38]
Chr8:119938806 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.330G>A (p.Gly110=) single nucleotide variant not provided [RCV003733955] Chr8:118933001 [GRCh38]
Chr8:119945240 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.983T>C (p.Leu328Pro) single nucleotide variant not provided [RCV003844611] Chr8:118924597 [GRCh38]
Chr8:119936836 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.766T>G (p.Leu256Val) single nucleotide variant not provided [RCV003846962] Chr8:118926545 [GRCh38]
Chr8:119938784 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.1173C>T (p.Asn391=) single nucleotide variant not provided [RCV003567294] Chr8:118924407 [GRCh38]
Chr8:119936646 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.592+20C>T single nucleotide variant not provided [RCV003857988] Chr8:118928718 [GRCh38]
Chr8:119940957 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.1173C>G (p.Asn391Lys) single nucleotide variant not provided [RCV003680413] Chr8:118924407 [GRCh38]
Chr8:119936646 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.218G>A (p.Ser73Asn) single nucleotide variant not provided [RCV003859798] Chr8:118933113 [GRCh38]
Chr8:119945352 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.999A>T (p.Arg333=) single nucleotide variant not provided [RCV003866896] Chr8:118924581 [GRCh38]
Chr8:119936820 [GRCh37]
Chr8:8q24.12		 likely benign
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_002546.4(TNFRSF11B):c.615A>T (p.Ala205=) single nucleotide variant not provided [RCV003565343] Chr8:118926696 [GRCh38]
Chr8:119938935 [GRCh37]
Chr8:8q24.12		 likely benign
GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1 copy number loss not specified [RCV003986782] Chr8:118071721..132774256 [GRCh37]
Chr8:8q24.11-24.22		 pathogenic
NM_002546.4(TNFRSF11B):c.1142A>G (p.Tyr381Cys) single nucleotide variant not provided [RCV003710723] Chr8:118924438 [GRCh38]
Chr8:119936677 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.30+19C>G single nucleotide variant not provided [RCV003858945] Chr8:118951773 [GRCh38]
Chr8:119964012 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.837C>T (p.Asn279=) single nucleotide variant not provided [RCV003858959] Chr8:118924743 [GRCh38]
Chr8:119936982 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.623G>C (p.Arg208Thr) single nucleotide variant not provided [RCV003820507] Chr8:118926688 [GRCh38]
Chr8:119938927 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.847C>T (p.Arg283Trp) single nucleotide variant not provided [RCV003862533] Chr8:118924733 [GRCh38]
Chr8:119936972 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.166G>C (p.Ala56Pro) single nucleotide variant not provided [RCV003567181] Chr8:118933165 [GRCh38]
Chr8:119945404 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.97G>C (p.Glu33Gln) single nucleotide variant not provided [RCV003542189] Chr8:118933234 [GRCh38]
Chr8:119945473 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.794A>G (p.Asp265Gly) single nucleotide variant not provided [RCV003823689] Chr8:118926517 [GRCh38]
Chr8:119938756 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.1055C>A (p.Ser352Ter) single nucleotide variant not provided [RCV003726922] Chr8:118924525 [GRCh38]
Chr8:119936764 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.401-12T>C single nucleotide variant not provided [RCV003706263] Chr8:118928941 [GRCh38]
Chr8:119941180 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.419_420del (p.Thr140fs) deletion Hyperphosphatasemia with bone disease [RCV003985152] Chr8:118928910..118928911 [GRCh38]
Chr8:119941149..119941150 [GRCh37]
Chr8:8q24.12		 likely pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
NM_002546.4(TNFRSF11B):c.177G>C (p.Lys59Asn) single nucleotide variant Inborn genetic diseases [RCV004473134] Chr8:118933154 [GRCh38]
Chr8:119945393 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.509G>A (p.Gly170Asp) single nucleotide variant Inborn genetic diseases [RCV004473135] Chr8:118928821 [GRCh38]
Chr8:119941060 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.895A>T (p.Met299Leu) single nucleotide variant Inborn genetic diseases [RCV004473136] Chr8:118924685 [GRCh38]
Chr8:119936924 [GRCh37]
Chr8:8q24.12		 uncertain significance
NC_000008.10:g.(?_118649470)_(122282519_?)del deletion Multiple congenital exostosis [RCV004583162] Chr8:118649470..122282519 [GRCh37]
Chr8:8q24.11-24.12		 pathogenic
NC_000008.10:g.(?_116426251)_(119965024_?)del deletion not provided [RCV004583324] Chr8:116426251..119965024 [GRCh37]
Chr8:8q23.3-24.12		 pathogenic
NC_000008.10:g.(?_116426251)_(120844804_?)dup duplication Multiple congenital exostosis [RCV004583164]|Trichorhinophalangeal syndrome, type III [RCV004583165] Chr8:116426251..120844804 [GRCh37]
Chr8:8q23.3-24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.401G>C (p.Gly134Ala) single nucleotide variant Inborn genetic diseases [RCV004967015] Chr8:118928929 [GRCh38]
Chr8:119941168 [GRCh37]
Chr8:8q24.12		 uncertain significance
GRCh37/hg19 8q23.2-24.3(chr8:111432348-146295771)x3 copy number gain not provided [RCV004819306] Chr8:111432348..146295771 [GRCh37]
Chr8:8q23.2-24.3		 pathogenic
NM_002546.4(TNFRSF11B):c.28G>T (p.Val10Leu) single nucleotide variant Inborn genetic diseases [RCV004967013] Chr8:118951794 [GRCh38]
Chr8:119964033 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.274T>G (p.Tyr92Asp) single nucleotide variant Inborn genetic diseases [RCV004967016] Chr8:118933057 [GRCh38]
Chr8:119945296 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.725G>A (p.Arg242Gln) single nucleotide variant Inborn genetic diseases [RCV004967014]|not provided [RCV005107949] Chr8:118926586 [GRCh38]
Chr8:119938825 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.817+7T>A single nucleotide variant not provided [RCV005196463] Chr8:118926487 [GRCh38]
Chr8:119938726 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.243A>C (p.Leu81=) single nucleotide variant not provided [RCV005146856] Chr8:118933088 [GRCh38]
Chr8:119945327 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.567T>C (p.Ser189=) single nucleotide variant not provided [RCV005062019] Chr8:118928763 [GRCh38]
Chr8:119941002 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.609G>C (p.Glu203Asp) single nucleotide variant not provided [RCV005170914] Chr8:118926702 [GRCh38]
Chr8:119938941 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.818-16C>T single nucleotide variant not provided [RCV005127382] Chr8:118924778 [GRCh38]
Chr8:119937017 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.19T>A (p.Cys7Ser) single nucleotide variant not provided [RCV005123341] Chr8:118951803 [GRCh38]
Chr8:119964042 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.640A>G (p.Lys214Glu) single nucleotide variant not provided [RCV005197539] Chr8:118926671 [GRCh38]
Chr8:119938910 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.1041C>T (p.His347=) single nucleotide variant not provided [RCV005202773] Chr8:118924539 [GRCh38]
Chr8:119936778 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.577C>T (p.Gln193Ter) single nucleotide variant not provided [RCV005151500] Chr8:118928753 [GRCh38]
Chr8:119940992 [GRCh37]
Chr8:8q24.12		 pathogenic
NM_002546.4(TNFRSF11B):c.1166T>G (p.Ile389Arg) single nucleotide variant not provided [RCV005082860] Chr8:118924414 [GRCh38]
Chr8:119936653 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.941A>C (p.Lys314Thr) single nucleotide variant not provided [RCV005186496] Chr8:118924639 [GRCh38]
Chr8:119936878 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.987_988del (p.Ser330fs) deletion not provided [RCV005132383] Chr8:118924592..118924593 [GRCh38]
Chr8:119936831..119936832 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.1185A>C (p.Ser395=) single nucleotide variant not provided [RCV005186581] Chr8:118924395 [GRCh38]
Chr8:119936634 [GRCh37]
Chr8:8q24.12		 likely benign
NM_002546.4(TNFRSF11B):c.487C>T (p.His163Tyr) single nucleotide variant not provided [RCV005139061] Chr8:118928843 [GRCh38]
Chr8:119941082 [GRCh37]
Chr8:8q24.12		 uncertain significance
NM_002546.4(TNFRSF11B):c.401-5_401-4inv inversion not provided [RCV005073703] Chr8:118928933..118928934 [GRCh38]
Chr8:119941172..119941173 [GRCh37]
Chr8:8q24.12		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:593
Count of miRNA genes:458
Interacting mature miRNAs:493
Transcripts:ENST00000297350, ENST00000517352, ENST00000521597
Prediction methods: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
597483806GWAS1579880_Hwhite matter integrity QTL GWAS1579880 (human)1e-08white matter integrity8118929038118929039Human
597111093GWAS1207167_HThyroid preparation use measurement QTL GWAS1207167 (human)6e-10Thyroid preparation use measurement8118939661118939662Human
597167514GWAS1263588_Halkaline phosphatase measurement QTL GWAS1263588 (human)6e-113alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)8118942872118942873Human
597167834GWAS1263908_Halkaline phosphatase measurement QTL GWAS1263908 (human)5e-26alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)8118948422118948423Human
597053907GWAS1149981_Heosinophil count QTL GWAS1149981 (human)6e-13eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)8118927620118927621Human
597101823GWAS1197897_Halkaline phosphatase measurement QTL GWAS1197897 (human)1e-84alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)8118947686118947687Human
597048325GWAS1144399_Hautoimmune disease QTL GWAS1144399 (human)5e-08autoimmune disease8118939661118939662Human
406970965GWAS619941_Hbasophil count, eosinophil count QTL GWAS619941 (human)7e-09eosinophil quantity (VT:0002602)blood granulocyte count (CMO:0000111)8118927620118927621Human
597164207GWAS1260281_Hcarbohydrate measurement QTL GWAS1260281 (human)0.000001carbohydrate measurement8118924007118924008Human
597393379GWAS1489453_Heosinophil count QTL GWAS1489453 (human)1e-13eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)8118930591118930592Human
406954909GWAS603885_Heosinophil count QTL GWAS603885 (human)9e-10eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)8118927620118927621Human
597071499GWAS1167573_Halkaline phosphatase measurement QTL GWAS1167573 (human)2e-22alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)8118947686118947687Human
597060168GWAS1156242_Hhypothyroidism QTL GWAS1156242 (human)3e-10hypothyroidism8118939661118939662Human
597225063GWAS1321137_Halkaline phosphatase measurement QTL GWAS1321137 (human)4e-128alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)8118940511118940512Human

Markers in Region
RH93303  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378119,936,488 - 119,936,622UniSTSGRCh37
Build 368120,005,669 - 120,005,803RGDNCBI36
Celera8116,124,765 - 116,124,899RGD
Cytogenetic Map8q24UniSTS
HuRef8115,264,023 - 115,264,157UniSTS
GeneMap99-GB4 RH Map8463.64UniSTS
PMC153764P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378119,936,634 - 119,936,957UniSTSGRCh37
Build 368120,005,815 - 120,006,138RGDNCBI36
Celera8116,124,911 - 116,125,234RGD
Cytogenetic Map8q24UniSTS
HuRef8115,264,169 - 115,264,492UniSTS
TNFRSF11B_1301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378119,935,613 - 119,936,492UniSTSGRCh37
Build 368120,004,794 - 120,005,673RGDNCBI36
Celera8116,123,890 - 116,124,769RGD
HuRef8115,263,148 - 115,264,027UniSTS


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
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2422 2779 2239 4934 1718 2317 3 620 1552 463 2258 6882 6066 41 3705 846 1722 1585 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB002146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB008822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF134187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP004283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY466112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM748946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ000897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK903484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA477521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U94332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000297350   ⟹   ENSP00000297350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8118,923,557 - 118,951,885 (-)Ensembl
Ensembl Acc Id: ENST00000517352   ⟹   ENSP00000427924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8118,926,510 - 118,951,883 (-)Ensembl
Ensembl Acc Id: ENST00000521597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8118,924,475 - 118,929,073 (-)Ensembl
RefSeq Acc Id: NM_002546   ⟹   NP_002537
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388118,923,557 - 118,951,885 (-)NCBI
GRCh378119,935,796 - 119,964,383 (-)ENTREZGENE
Build 368120,004,977 - 120,033,564 (-)NCBI Archive
HuRef8115,263,331 - 115,291,874 (-)ENTREZGENE
CHM1_18119,976,820 - 120,005,398 (-)NCBI
T2T-CHM13v2.08120,051,990 - 120,080,310 (-)NCBI
Sequence:
RefSeq Acc Id: NP_002537   ⟸   NM_002546
- Peptide Label: precursor
- UniProtKB: Q53FX6 (UniProtKB/Swiss-Prot),   O60236 (UniProtKB/Swiss-Prot),   B2R9A8 (UniProtKB/Swiss-Prot),   Q9UHP4 (UniProtKB/Swiss-Prot),   O00300 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000427924   ⟸   ENST00000517352
Ensembl Acc Id: ENSP00000297350   ⟸   ENST00000297350
Protein Domains
Death   TNFR-Cys

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00300-F1-model_v2 AlphaFold O00300 1-401 view protein structure

Promoters
RGD ID:7214053
Promoter ID:EPDNEW_H12772
Type:initiation region
Name:TNFRSF11B_1
Description:TNF receptor superfamily member 11b
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12773  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388118,951,885 - 118,951,945EPDNEW
RGD ID:7214055
Promoter ID:EPDNEW_H12773
Type:initiation region
Name:TNFRSF11B_2
Description:TNF receptor superfamily member 11b
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12772  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388118,952,136 - 118,952,196EPDNEW
RGD ID:6807073
Promoter ID:HG_KWN:61976
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:NM_002546,   UC010MDC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368120,033,019 - 120,033,519 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11909 AgrOrtholog
COSMIC TNFRSF11B COSMIC
Ensembl Genes ENSG00000164761 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000297350 ENTREZGENE
  ENST00000297350.9 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.533.10 UniProtKB/Swiss-Prot
  Tumor Necrosis Factor Receptor, subunit A, domain 2 UniProtKB/Swiss-Prot
GTEx ENSG00000164761 GTEx
HGNC ID HGNC:11909 ENTREZGENE
Human Proteome Map TNFRSF11B Human Proteome Map
InterPro DEATH-like_dom_sf UniProtKB/Swiss-Prot
  Death_domain UniProtKB/Swiss-Prot
  TNFR/NGFR_Cys_rich_reg UniProtKB/Swiss-Prot
  TNFR_11 UniProtKB/Swiss-Prot
  TNFR_11B UniProtKB/Swiss-Prot
  TNFRSF_decoy_receptor UniProtKB/Swiss-Prot
KEGG Report hsa:4982 UniProtKB/Swiss-Prot
NCBI Gene 4982 ENTREZGENE
OMIM 602643 OMIM
PANTHER TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY MEMBER UniProtKB/Swiss-Prot
  TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY MEMBER 11B UniProtKB/Swiss-Prot
Pfam Death UniProtKB/Swiss-Prot
  TNFR_c6 UniProtKB/Swiss-Prot
PharmGKB PA36602 PharmGKB
PIRSF TNFR_11B UniProtKB/Swiss-Prot
PRINTS TNFACTORR11 UniProtKB/Swiss-Prot
  TNFACTORR11B UniProtKB/Swiss-Prot
PROSITE TNFR_NGFR_1 UniProtKB/Swiss-Prot
  TNFR_NGFR_2 UniProtKB/Swiss-Prot
SMART DEATH UniProtKB/Swiss-Prot
  Ephrin_rec_like UniProtKB/Swiss-Prot
  TNFR UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47986 UniProtKB/Swiss-Prot
  TNF receptor-like UniProtKB/Swiss-Prot
UniProt B2R9A8 ENTREZGENE
  E5RFV7_HUMAN UniProtKB/TrEMBL
  O00300 ENTREZGENE
  O60236 ENTREZGENE
  Q53FX6 ENTREZGENE
  Q9UHP4 ENTREZGENE
  TR11B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2R9A8 UniProtKB/Swiss-Prot
  O60236 UniProtKB/Swiss-Prot
  Q53FX6 UniProtKB/Swiss-Prot
  Q9UHP4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-23 TNFRSF11B  TNF receptor superfamily member 11b  PDB5  Paget disease of bone 5  Data merged from RGD:1352364 737654 PROVISIONAL
2016-06-30 TNFRSF11B  TNF receptor superfamily member 11b  TNFRSF11B  tumor necrosis factor receptor superfamily member 11b  Symbol and/or name change 5135510 APPROVED
2015-11-24 TNFRSF11B  tumor necrosis factor receptor superfamily member 11b  TNFRSF11B  tumor necrosis factor receptor superfamily, member 11b  Symbol and/or name change 5135510 APPROVED