KL (klotho) - Rat Genome Database

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Gene: KL (klotho) Homo sapiens
Analyze
Symbol: KL
Name: klotho
RGD ID: 732783
HGNC Page HGNC:6344
Description: Enables fibroblast growth factor binding activity. Involved in aging and positive regulation of bone mineralization. Located in extracellular exosome. Implicated in coronary artery disease; intracranial embolism; and spondylosis. Biomarker of chronic kidney disease and end stage renal disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-klotho; HFTC3; KLA
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: BMD8_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381333,016,243 - 33,066,143 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1333,016,423 - 33,066,143 (+)EnsemblGRCh38hg38GRCh38
GRCh371333,590,561 - 33,640,280 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361332,488,571 - 32,538,279 (+)NCBINCBI36Build 36hg18NCBI36
Build 341332,488,570 - 32,538,279NCBI
Celera1314,657,386 - 14,707,106 (+)NCBICelera
Cytogenetic Map13q13.1NCBI
HuRef1314,401,659 - 14,452,070 (+)NCBIHuRef
CHM1_11333,558,119 - 33,607,832 (+)NCBICHM1_1
T2T-CHM13v2.01332,233,737 - 32,283,464 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(Z)-ligustilide  (EXP,ISO)
1,1-dichloroethene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol 3-glucosiduronic acid  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-Hydroxy-6-(8,11,14-pentadecatrienyl)benzoic acid  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4-hydroperoxycyclophosphamide  (ISO)
acrylamide  (ISO)
amino acid  (ISO)
ammonium chloride  (ISO)
androsterone 3-glucosiduronic acid  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (ISO)
bleomycin A2  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
calciol  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
cocaine  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
dehydroepiandrosterone  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dioxygen  (EXP)
doxorubicin  (ISO)
elemental selenium  (EXP)
estriol 3-O-(beta-D-glucuronide)  (ISO)
estrone 3-O-(beta-D-glucuronide)  (ISO)
ethanol  (ISO)
fosinopril  (ISO)
genistein  (EXP)
glycidol  (ISO)
guggulsterone  (EXP)
indoxyl sulfate  (EXP,ISO)
lead diacetate  (ISO)
lipopolysaccharide  (ISO)
malonaldehyde  (ISO)
melatonin  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
nitrates  (ISO)
Osajin  (EXP)
paraquat  (ISO)
phenobarbital  (EXP)
phosphorus atom  (ISO)
phosphorus(.)  (ISO)
Pomiferin  (EXP)
potassium dichromate  (ISO)
propanal  (EXP)
puerarin  (EXP)
pyrrolidine dithiocarbamate  (EXP)
resveratrol  (EXP,ISO)
retinyl acetate  (ISO)
Rosavin  (EXP)
selenium atom  (EXP)
SL-327  (ISO)
sodium arsenite  (ISO)
sodium chlorate  (EXP)
streptozocin  (ISO)
taurocholic acid  (ISO)
testosterone 17-glucosiduronic acid  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
valsartan  (ISO)
vancomycin  (ISO)
vitamin D  (EXP)
vitamin E  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Downregulation of the Klotho gene in the kidney under sustained circulatory stress in rats. Aizawa H, etal., Biochem Biophys Res Commun. 1998 Aug 28;249(3):865-71.
2. Association between a functional variant of the KLOTHO gene and high-density lipoprotein cholesterol, blood pressure, stroke, and longevity. Arking DE, etal., Circ Res. 2005 Mar 4;96(4):412-8. Epub 2005 Jan 27.
3. Vitamin D-deficient diet rescues hearing loss in Klotho mice. Carpinelli MR, etal., Hear Res. 2011 May;275(1-2):105-9. doi: 10.1016/j.heares.2010.12.009. Epub 2010 Dec 16.
4. Fosinopril and valsartan intervention in gene expression of Klotho, MMP-9, TIMP-1, and PAI-1 in the kidney of spontaneously hypertensive rats. Cheng X, etal., Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2010 Oct;35(10):1048-56. doi: 10.3969/j.issn.1672-7347.2010.10.004.
5. Retinitis Pigmentosa: over-expression of anti-ageing protein Klotho in degenerating photoreceptors. Farinelli P, etal., J Neurochem. 2013 Dec;127(6):868-79. doi: 10.1111/jnc.12353. Epub 2013 Jul 22.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. Increased parathyroid expression of klotho in uremic rats. Hofman-Bang J, etal., Kidney Int. 2010 Dec;78(11):1119-27. doi: 10.1038/ki.2010.215. Epub 2010 Jul 14.
8. Klotho deficiency causes vascular calcification in chronic kidney disease. Hu MC, etal., J Am Soc Nephrol. 2011 Jan;22(1):124-36. doi: 10.1681/ASN.2009121311. Epub 2010 Nov 29.
9. Rosiglitazone is effective to improve renal damage in type-1-like diabetic rats. Huang KC, etal., Horm Metab Res. 2014 Apr;46(4):240-4. doi: 10.1055/s-0033-1357161. Epub 2013 Oct 17.
10. Klotho gene polymorphism may be a genetic risk factor for atherosclerotic coronary artery disease but not for vasospastic angina in Japanese. Imamura A, etal., Clin Chim Acta. 2006 Sep;371(1-2):66-70. Epub 2006 Mar 6.
11. Sepsis-induced hypercytokinemia and lymphocyte apoptosis in aging-accelerated Klotho knockout mice. Inoue S, etal., Shock. 2013 Mar;39(3):311-6. doi: 10.1097/SHK.0b013e3182845445.
12. Klotho is a genetic risk factor for ischemic stroke caused by cardioembolism in Korean females. Kim Y, etal., Neurosci Lett. 2006 Oct 30;407(3):189-94. Epub 2006 Sep 14.
13. Severely reduced production of klotho in human chronic renal failure kidney. Koh N, etal., Biochem Biophys Res Commun. 2001 Feb 2;280(4):1015-20.
14. Klotho upregulation contributes to the neuroprotection of ligustilide in an Alzheimer's disease mouse model. Kuang X, etal., Neurobiol Aging. 2014 Jan;35(1):169-78. doi: 10.1016/j.neurobiolaging.2013.07.019. Epub 2013 Aug 21.
15. Mutation of the mouse klotho gene leads to a syndrome resembling ageing. Kuro-o M, etal., Nature. 1997 Nov 6;390(6655):45-51.
16. Regulation of fibroblast growth factor-23 signaling by klotho. Kurosu H, etal., J Biol Chem. 2006 Mar 10;281(10):6120-3. Epub 2006 Jan 25.
17. [Klotho gene attenuates the progression of hypertension and heart damage in spontaneous hypertensive rats]. Li BS, etal., Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Dec;29(6):662-8. doi: 10.3760/cma.j.issn.1003-9406.2012.06.008.
18. In vivo klotho gene transfer ameliorates angiotensin II-induced renal damage. Mitani H, etal., Hypertension 2002 Apr;39(4):838-43.
19. Endothelial dysfunction in the klotho mouse and downregulation of klotho gene expression in various animal models of vascular and metabolic diseases. Nagai R, etal., Cell Mol Life Sci. 2000 May;57(5):738-46.
20. Association of klotho gene polymorphism with bone density and spondylosis of the lumbar spine in postmenopausal women. Ogata N, etal., Bone. 2002 Jul;31(1):37-42.
21. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
22. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
23. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
24. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
25. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
26. The differential effects of age on the association of KLOTHO gene polymorphisms with coronary artery disease. Rhee EJ, etal., Metabolism. 2006 Oct;55(10):1344-51.
27. In vivo klotho gene delivery protects against endothelial dysfunction in multiple risk factor syndrome. Saito Y, etal., Biochem Biophys Res Commun. 2000 Sep 24;276(2):767-72.
28. Klotho reduces apoptosis in experimental ischaemic acute renal failure. Sugiura H, etal., Nephrol Dial Transplant. 2005 Dec;20(12):2636-45. Epub 2005 Oct 4.
29. Sinoatrial node dysfunction and early unexpected death of mice with a defect of klotho gene expression. Takeshita K, etal., Circulation. 2004 Apr 13;109(14):1776-82. Epub 2004 Mar 22.
30. Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin beta3 gene as a cause of the absence of platelet alphaIIbbeta3 in Glanzmann's thrombasthenia. Tanaka S, etal., J Thromb Haemost. 2005 Jan;3(1):68-73.
31. Tumor necrosis factor and interferon-gamma down-regulate Klotho in mice with colitis. Thurston RD, etal., Gastroenterology. 2010 Apr;138(4):1384-94, 1394.e1-2. doi: 10.1053/j.gastro.2009.12.002. Epub 2009 Dec 11.
32. Association of KLOTHO gene polymorphisms with knee osteoarthritis in Greek population. Tsezou A, etal., J Orthop Res. 2008 Nov;26(11):1466-70. doi: 10.1002/jor.20634.
33. Renal expression of FGF23 in progressive renal disease of diabetes and the effect of ACE inhibitor. Zanchi C, etal., PLoS One. 2013 Aug 14;8(8):e70775. doi: 10.1371/journal.pone.0070775. eCollection 2013.
Additional References at PubMed
PMID:9464267   PMID:10579907   PMID:10629055   PMID:10631108   PMID:11043382   PMID:11137391   PMID:11792841   PMID:12369777   PMID:12669274   PMID:12771308   PMID:14534538   PMID:14702039  
PMID:15057823   PMID:15135068   PMID:15763166   PMID:15784727   PMID:16151675   PMID:16262891   PMID:16325773   PMID:16753056   PMID:16955217   PMID:16957409   PMID:17014852   PMID:17086194  
PMID:17202338   PMID:17205327   PMID:17270470   PMID:17332731   PMID:17339340   PMID:17408468   PMID:17624411   PMID:17710231   PMID:17711860   PMID:18034366   PMID:18308935   PMID:18547997  
PMID:18591743   PMID:18660672   PMID:18678710   PMID:18682507   PMID:18756295   PMID:18762812   PMID:18818748   PMID:18829467   PMID:18974842   PMID:19019335   PMID:19019915   PMID:19056867  
PMID:19077115   PMID:19119257   PMID:19121771   PMID:19230844   PMID:19246844   PMID:19329831   PMID:19349416   PMID:19411745   PMID:19419323   PMID:19421891   PMID:19453261   PMID:19480830  
PMID:19527514   PMID:19539617   PMID:19680556   PMID:19690404   PMID:19756714   PMID:19802015   PMID:19878569   PMID:19890272   PMID:19913121   PMID:19913601   PMID:20005218   PMID:20068287  
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PMID:20955350   PMID:21075474   PMID:21093413   PMID:21209102   PMID:21336305   PMID:21376714   PMID:21389697   PMID:21406293   PMID:21411554   PMID:21422754   PMID:21523445   PMID:21529984  
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PMID:21873635   PMID:21945708   PMID:21948763   PMID:21982773   PMID:22042362   PMID:22045427   PMID:22193235   PMID:22212556   PMID:22217880   PMID:22245317   PMID:22338084   PMID:22360923  
PMID:22396167   PMID:22452701   PMID:22457086   PMID:22492635   PMID:22530731   PMID:22551879   PMID:22590958   PMID:22710352   PMID:22715479   PMID:22782974   PMID:22836100   PMID:22922788  
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PMID:23433103   PMID:23437382   PMID:23516476   PMID:23533145   PMID:23552627   PMID:23559584   PMID:23603386   PMID:23634661   PMID:23652546   PMID:23652548   PMID:23652549   PMID:23652554  
PMID:23665422   PMID:23673970   PMID:23707222   PMID:23711492   PMID:23756195   PMID:23770558   PMID:23774819   PMID:23808483   PMID:23818104   PMID:23929932   PMID:23941507   PMID:23945089  
PMID:23993164   PMID:24107965   PMID:24157012   PMID:24164579   PMID:24165855   PMID:24217253   PMID:24224012   PMID:24457979   PMID:24466013   PMID:24530772   PMID:24606097   PMID:24745611  
PMID:24760622   PMID:24818842   PMID:24864466   PMID:24880094   PMID:24894433   PMID:24939736   PMID:24991914   PMID:25063799   PMID:25084095   PMID:25120167   PMID:25130652   PMID:25193108  
PMID:25198618   PMID:25200959   PMID:25223536   PMID:25324355   PMID:25378396   PMID:25380886   PMID:25470806   PMID:25531216   PMID:25601466   PMID:25766835   PMID:25781694   PMID:25827069  
PMID:25867461   PMID:25873020   PMID:25923845   PMID:26022923   PMID:26061549   PMID:26080320   PMID:26093264   PMID:26094336   PMID:26116633   PMID:26152288   PMID:26161015   PMID:26197428  
PMID:26201096   PMID:26209729   PMID:26221880   PMID:26261651   PMID:26279337   PMID:26280509   PMID:26287968   PMID:26289053   PMID:26298739   PMID:26346243   PMID:26385922   PMID:26405063  
PMID:26460265   PMID:26462468   PMID:26499380   PMID:26531219   PMID:26538295   PMID:26556877   PMID:26597587   PMID:26601789   PMID:26607681   PMID:26634510   PMID:26665756   PMID:26732817  
PMID:26813039   PMID:26880028   PMID:26944121   PMID:26972301   PMID:27017221   PMID:27021580   PMID:27037042   PMID:27055909   PMID:27118192   PMID:27140192   PMID:27215557   PMID:27251899  
PMID:27260080   PMID:27323770   PMID:27387242   PMID:27400031   PMID:27448998   PMID:27450645   PMID:27573985   PMID:27576165   PMID:27661766   PMID:27696667   PMID:27733443   PMID:27779100  
PMID:27838783   PMID:27879395   PMID:27916483   PMID:27979597   PMID:27999806   PMID:28095050   PMID:28116736   PMID:28120476   PMID:28153033   PMID:28157067   PMID:28183357   PMID:28232477  
PMID:28259911   PMID:28303350   PMID:28332126   PMID:28407763   PMID:28411025   PMID:28431289   PMID:28442546   PMID:28463984   PMID:28478304   PMID:28539162   PMID:28558021   PMID:28651327  
PMID:28656297   PMID:28673204   PMID:28673754   PMID:28812223   PMID:28831601   PMID:28963437   PMID:28988528   PMID:29061648   PMID:29154273   PMID:29190606   PMID:29226550   PMID:29247834  
PMID:29320841   PMID:29342138   PMID:29389098   PMID:29441993   PMID:29506503   PMID:29509906   PMID:29550818   PMID:29590173   PMID:29604296   PMID:29648999   PMID:29665846   PMID:29693450  
PMID:29712948   PMID:29748308   PMID:29775618   PMID:29843135   PMID:29846497   PMID:29849175   PMID:29884183   PMID:30010839   PMID:30042059   PMID:30048945   PMID:30064142   PMID:30232408  
PMID:30269819   PMID:30357572   PMID:30393836   PMID:30419404   PMID:30455427   PMID:30537427   PMID:30547758   PMID:30581063   PMID:30592280   PMID:30595559   PMID:30620382   PMID:30633899  
PMID:30686068   PMID:30699231   PMID:30714826   PMID:30716541   PMID:30762931   PMID:30773786   PMID:30773798   PMID:30784349   PMID:30785341   PMID:30804272   PMID:30860544   PMID:30872092  
PMID:30887870   PMID:30934737   PMID:31025926   PMID:31027673   PMID:31042083   PMID:31063704   PMID:31079116   PMID:31094281   PMID:31187426   PMID:31324693   PMID:31390595   PMID:31430745  
PMID:31446221   PMID:31507133   PMID:31519772   PMID:31520610   PMID:31536138   PMID:31545552   PMID:31546756   PMID:31707148   PMID:31709849   PMID:31732843   PMID:31792355   PMID:31924336  
PMID:31958773   PMID:31967380   PMID:31972978   PMID:31992575   PMID:32046115   PMID:32077762   PMID:32134975   PMID:32196848   PMID:32215890   PMID:32282020   PMID:32319182   PMID:32347311  
PMID:32398866   PMID:32435919   PMID:32438247   PMID:32444684   PMID:32464602   PMID:32509139   PMID:32527977   PMID:32546231   PMID:32571701   PMID:32581247   PMID:32627121   PMID:32710436  
PMID:32729817   PMID:32746667   PMID:32897222   PMID:33017825   PMID:33040068   PMID:33096543   PMID:33153705   PMID:33174123   PMID:33185993   PMID:33219692   PMID:33220250   PMID:33222666  
PMID:33225726   PMID:33257569   PMID:33296101   PMID:33299496   PMID:33349438   PMID:33376748   PMID:33385780   PMID:33386992   PMID:33405323   PMID:33423524   PMID:33438362   PMID:33454278  
PMID:33478014   PMID:33479413   PMID:33582500   PMID:33832412   PMID:33864468   PMID:33907242   PMID:34046744   PMID:34049038   PMID:34110636   PMID:34125262   PMID:34219715   PMID:34226614  
PMID:34273040   PMID:34350997   PMID:34354161   PMID:34403147   PMID:34459924   PMID:34490660   PMID:34503373   PMID:34503454   PMID:34556498   PMID:34603200   PMID:34647605   PMID:34673637  
PMID:34713986   PMID:34718928   PMID:34724098   PMID:34763683   PMID:34839623   PMID:34893828   PMID:35042527   PMID:35053218   PMID:35139204   PMID:35172146   PMID:35213382   PMID:35279809  
PMID:35351833   PMID:35468874   PMID:35480629   PMID:35503049   PMID:35538062   PMID:35563402   PMID:35988933   PMID:35992154   PMID:36009045  


Genomics

Comparative Map Data
KL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381333,016,243 - 33,066,143 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1333,016,423 - 33,066,143 (+)EnsemblGRCh38hg38GRCh38
GRCh371333,590,561 - 33,640,280 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361332,488,571 - 32,538,279 (+)NCBINCBI36Build 36hg18NCBI36
Build 341332,488,570 - 32,538,279NCBI
Celera1314,657,386 - 14,707,106 (+)NCBICelera
Cytogenetic Map13q13.1NCBI
HuRef1314,401,659 - 14,452,070 (+)NCBIHuRef
CHM1_11333,558,119 - 33,607,832 (+)NCBICHM1_1
T2T-CHM13v2.01332,233,737 - 32,283,464 (+)NCBIT2T-CHM13v2.0
Kl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395150,876,072 - 150,917,282 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5150,876,072 - 150,917,282 (+)EnsemblGRCm39 Ensembl
GRCm385150,952,607 - 150,993,817 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5150,952,607 - 150,993,817 (+)EnsemblGRCm38mm10GRCm38
MGSCv375151,755,182 - 151,796,392 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365151,221,078 - 151,262,196 (+)NCBIMGSCv36mm8
Celera5148,957,067 - 148,998,277 (+)NCBICelera
Cytogenetic Map5G3NCBI
Kl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.212490,402 - 531,417 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl12490,399 - 530,080 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx121,064,277 - 1,103,820 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0121,586,514 - 1,626,063 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.012486,601 - 526,810 (+)NCBIRnor_WKY
Rnor_6.012942,974 - 987,206 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl12943,006 - 987,551 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.012929,158 - 972,144 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4123,732,712 - 3,772,371 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1123,732,711 - 3,772,371 (-)NCBI
Celera122,195,730 - 2,234,485 (+)NCBICelera
Cytogenetic Map12p12NCBI
Kl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543112,782,846 - 12,833,215 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543112,782,913 - 12,833,215 (-)NCBIChiLan1.0ChiLan1.0
KL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11332,697,381 - 32,752,578 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1332,702,336 - 32,751,458 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01314,272,463 - 14,321,122 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
KL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1257,154,359 - 7,201,744 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl257,156,620 - 7,199,558 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha257,190,325 - 7,236,623 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0257,256,203 - 7,302,574 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl257,255,966 - 7,302,141 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1257,155,694 - 7,201,964 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0257,148,224 - 7,195,654 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0257,211,791 - 7,258,193 (-)NCBIUU_Cfam_GSD_1.0
Kl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945168,294,810 - 168,347,489 (-)NCBIHiC_Itri_2
SpeTri2.0NW_00493647227,604,681 - 27,649,613 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl119,427,037 - 9,479,228 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1119,427,236 - 9,479,251 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2119,357,470 - 9,390,509 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1311,755,015 - 11,799,537 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl311,755,016 - 11,797,596 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605732,549,747 - 32,594,290 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462491595,155 - 110,834 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KL
212 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1122
Count of miRNA genes:710
Interacting mature miRNAs:819
Transcripts:ENST00000380099, ENST00000426690, ENST00000487852
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.

Markers in Region
SHGC-83563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371333,592,556 - 33,592,840UniSTSGRCh37
Build 361332,490,556 - 32,490,840RGDNCBI36
Celera1314,659,371 - 14,659,655RGD
Cytogenetic Map13q12UniSTS
HuRef1314,403,644 - 14,403,928UniSTS
SHGC-106169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371333,623,167 - 33,623,497UniSTSGRCh37
Build 361332,521,167 - 32,521,497RGDNCBI36
Celera1314,689,997 - 14,690,327RGD
Cytogenetic Map13q12UniSTS
HuRef1314,434,960 - 14,435,290UniSTS
SHGC-170589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371333,608,137 - 33,608,433UniSTSGRCh37
Build 361332,506,137 - 32,506,433RGDNCBI36
Celera1314,674,966 - 14,675,262RGD
Cytogenetic Map13q12UniSTS
HuRef1314,419,242 - 14,419,538UniSTS
G31530  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371333,639,554 - 33,639,661UniSTSGRCh37
Build 361332,537,554 - 32,537,661RGDNCBI36
Celera1314,706,378 - 14,706,485RGD
Cytogenetic Map13q12UniSTS
HuRef1314,451,342 - 14,451,449UniSTS
KL__6522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371333,639,627 - 33,640,473UniSTSGRCh37
Build 361332,537,627 - 32,538,473RGDNCBI36
Celera1314,706,451 - 14,707,297RGD
HuRef1314,451,415 - 14,452,261UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 19 3 6 9 98 1 26 246 62 141 123 4 2
Low 2237 1833 1018 202 1101 58 3172 1584 2237 123 1055 1264 152 1 1081 2109 1 1
Below cutoff 109 1110 643 373 636 358 891 595 1412 36 275 86 20 675

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA890465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB005142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB009667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB673445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB988086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB571443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z84483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000380099   ⟹   ENSP00000369442
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1333,016,423 - 33,066,143 (+)Ensembl
RefSeq Acc Id: ENST00000487852
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1333,016,433 - 33,064,303 (+)Ensembl
RefSeq Acc Id: NM_004795   ⟹   NP_004786
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381333,016,423 - 33,066,143 (+)NCBI
GRCh371333,590,571 - 33,640,282 (+)ENTREZGENE
Build 361332,488,571 - 32,538,279 (+)NCBI Archive
HuRef1314,401,659 - 14,452,070 (+)ENTREZGENE
CHM1_11333,558,119 - 33,607,832 (+)NCBI
T2T-CHM13v2.01332,233,737 - 32,283,464 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719895   ⟹   XP_006719958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381333,016,243 - 33,066,143 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047430775   ⟹   XP_047286731
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381333,016,423 - 33,058,317 (+)NCBI
RefSeq Acc Id: XM_047430776   ⟹   XP_047286732
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381333,016,423 - 33,061,572 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_004786   ⟸   NM_004795
- Peptide Label: precursor
- UniProtKB: Q9Y4F0 (UniProtKB/Swiss-Prot),   Q9UEF7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006719958   ⟸   XM_006719895
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000369442   ⟸   ENST00000380099
RefSeq Acc Id: XP_047286732   ⟸   XM_047430776
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047286731   ⟸   XM_047430775
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UEF7-F1-model_v2 AlphaFold Q9UEF7 1-1012 view protein structure

Promoters
RGD ID:6790955
Promoter ID:HG_KWN:17505
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000045987,   OTTHUMT00000045988,   UC001UUR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361332,488,171 - 32,489,292 (+)MPROMDB
RGD ID:7226193
Promoter ID:EPDNEW_H18842
Type:initiation region
Name:KL_1
Description:klotho
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381333,016,425 - 33,016,485EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
KL, KL-VS HAPLOTYPE variation KLOTHO POLYMORPHISM [RCV000005674] Chr13:13q12 risk factor|benign
NM_004795.4(KL):c.578A>G (p.His193Arg) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758698]|Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000005675] Chr13:33017018 [GRCh38]
Chr13:33591156 [GRCh37]
Chr13:13q13.1
pathogenic|likely pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3
pathogenic
GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 copy number loss See cases [RCV000051373] Chr13:30697728..69471973 [GRCh38]
Chr13:31271865..70046105 [GRCh37]
Chr13:30169865..68944106 [NCBI36]
Chr13:13q12.3-21.33
pathogenic
GRCh38/hg38 13q12.3-13.2(chr13:31164047-34428736)x1 copy number loss See cases [RCV000051374] Chr13:31164047..34428736 [GRCh38]
Chr13:31738184..35002873 [GRCh37]
Chr13:30636184..33900873 [NCBI36]
Chr13:13q12.3-13.2
pathogenic
GRCh38/hg38 13q13.1(chr13:33018055-33389580)x1 copy number loss See cases [RCV000051891] Chr13:33018055..33389580 [GRCh38]
Chr13:33592193..33963717 [GRCh37]
Chr13:32490193..32861717 [NCBI36]
Chr13:13q13.1
uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 copy number gain See cases [RCV000053721] Chr13:18676442..37656039 [GRCh38]
Chr13:19250582..38230176 [GRCh37]
Chr13:18148582..37128176 [NCBI36]
Chr13:13q11-13.3
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
NM_004795.3(KL):c.1558C>T (p.Pro520Ser) single nucleotide variant Malignant melanoma [RCV000070340] Chr13:33055274 [GRCh38]
Chr13:33629411 [GRCh37]
Chr13:32527411 [NCBI36]
Chr13:13q13.1
not provided
NM_004795.3(KL):c.2319G>A (p.Val773=) single nucleotide variant Malignant melanoma [RCV000070341] Chr13:33061398 [GRCh38]
Chr13:33635535 [GRCh37]
Chr13:32533535 [NCBI36]
Chr13:13q13.1
not provided
NM_004795.3(KL):c.1647G>A (p.Trp549Ter) single nucleotide variant Malignant melanoma [RCV000062663] Chr13:33060726 [GRCh38]
Chr13:33634863 [GRCh37]
Chr13:32532863 [NCBI36]
Chr13:13q13.1
not provided
NM_004795.4(KL):c.2505C>G (p.Asp835Glu) single nucleotide variant not provided [RCV000054732] Chr13:33061584 [GRCh38]
Chr13:33635721 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2683A>G (p.Ile895Val) single nucleotide variant not provided [RCV000054733] Chr13:33061762 [GRCh38]
Chr13:33635899 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2684T>C (p.Ile895Thr) single nucleotide variant not provided [RCV000054734] Chr13:33061763 [GRCh38]
Chr13:33635900 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2862G>A (p.Pro954=) single nucleotide variant not provided [RCV000054735] Chr13:33064009 [GRCh38]
Chr13:33638146 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.3029G>A (p.Ser1010Asn) single nucleotide variant not provided [RCV000054736] Chr13:33064176 [GRCh38]
Chr13:33638313 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.387C>T (p.Tyr129=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113055]|not provided [RCV000054737] Chr13:33016827 [GRCh38]
Chr13:33590965 [GRCh37]
Chr13:13q13.1
benign|likely benign|uncertain significance
NM_004795.4(KL):c.497A>G (p.Asn166Ser) single nucleotide variant not provided [RCV000054738] Chr13:33016937 [GRCh38]
Chr13:33591075 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.639C>A (p.Ala213=) single nucleotide variant not provided [RCV000054739] Chr13:33017079 [GRCh38]
Chr13:33591217 [GRCh37]
Chr13:13q13.1
uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 copy number gain See cases [RCV000135808] Chr13:31553608..65470367 [GRCh38]
Chr13:32127745..66044499 [GRCh37]
Chr13:31025745..64942500 [NCBI36]
Chr13:13q12.3-21.32
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 copy number gain See cases [RCV000137892] Chr13:19671934..40914767 [GRCh38]
Chr13:20246074..41488903 [GRCh37]
Chr13:19144074..40386903 [NCBI36]
Chr13:13q12.11-14.11
pathogenic
GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1 copy number loss See cases [RCV000137923] Chr13:29073320..36556014 [GRCh38]
Chr13:29647457..37130151 [GRCh37]
Chr13:28545457..36028151 [NCBI36]
Chr13:13q12.3-13.3
pathogenic
GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1 copy number loss See cases [RCV000138723] Chr13:31018160..48491204 [GRCh38]
Chr13:31592297..49065340 [GRCh37]
Chr13:30490297..47963341 [NCBI36]
Chr13:13q12.3-14.2
pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1
pathogenic
GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1 copy number loss See cases [RCV000139225] Chr13:30313809..39267681 [GRCh38]
Chr13:30887946..39841818 [GRCh37]
Chr13:29785946..38739818 [NCBI36]
Chr13:13q12.3-13.3
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3 copy number gain See cases [RCV000141867] Chr13:18862146..33577351 [GRCh38]
Chr13:19436286..34151488 [GRCh37]
Chr13:18334286..33049488 [NCBI36]
Chr13:13q11-13.2
pathogenic
GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3 copy number gain See cases [RCV000142869] Chr13:29321454..36995348 [GRCh38]
Chr13:29895591..37569485 [GRCh37]
Chr13:28793591..36467485 [NCBI36]
Chr13:13q12.3-13.3
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q13.1-13.2(chr13:32709960-33487709)x3 copy number gain See cases [RCV000143141] Chr13:32709960..33487709 [GRCh38]
Chr13:33284097..34061846 [GRCh37]
Chr13:32182097..32959846 [NCBI36]
Chr13:13q13.1-13.2
uncertain significance
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
NM_004795.4(KL):c.1155G>A (p.Lys385=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000265097]|not provided [RCV001538558] Chr13:33054102 [GRCh38]
Chr13:33628239 [GRCh37]
Chr13:13q13.1
benign|likely benign
NM_004795.4(KL):c.2779C>T (p.Leu927Phe) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000301739] Chr13:33063926 [GRCh38]
Chr13:33638063 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1372T>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000346654] Chr13:33065558 [GRCh38]
Chr13:33639695 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*934T>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000285682] Chr13:33065120 [GRCh38]
Chr13:33639257 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1286A>G single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000303455] Chr13:33065472 [GRCh38]
Chr13:33639609 [GRCh37]
Chr13:13q13.1
benign|likely benign
NM_004795.4(KL):c.*32A>G single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000270295] Chr13:33064218 [GRCh38]
Chr13:33638355 [GRCh37]
Chr13:13q13.1
likely benign|uncertain significance
NM_004795.4(KL):c.3008A>G (p.Tyr1003Cys) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000271012]|not provided [RCV000905120] Chr13:33064155 [GRCh38]
Chr13:33638292 [GRCh37]
Chr13:13q13.1
benign|uncertain significance
NM_004795.4(KL):c.320C>T (p.Ala107Val) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000288814]|not provided [RCV002056370] Chr13:33016760 [GRCh38]
Chr13:33590898 [GRCh37]
Chr13:13q13.1
benign|uncertain significance
NM_004795.4(KL):c.1780C>T (p.Arg594Cys) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000352375] Chr13:33060859 [GRCh38]
Chr13:33634996 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1894T>G single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000353005] Chr13:33066080 [GRCh38]
Chr13:33640217 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.140G>A (p.Arg47Gln) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000290579]|not provided [RCV002056369] Chr13:33016580 [GRCh38]
Chr13:33590718 [GRCh37]
Chr13:13q13.1
benign|likely benign
NM_004795.4(KL):c.1540C>T (p.Pro514Ser) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000273254]|not provided [RCV001612991] Chr13:33055256 [GRCh38]
Chr13:33629393 [GRCh37]
Chr13:13q13.1
benign|likely benign
NM_004795.4(KL):c.*407T>C single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000273666] Chr13:33064593 [GRCh38]
Chr13:33638730 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.*735G>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000334750] Chr13:33064921 [GRCh38]
Chr13:33639058 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1728A>G single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000275734] Chr13:33065914 [GRCh38]
Chr13:33640051 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2247T>C (p.Ala749=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000294071]|not provided [RCV001535326] Chr13:33061326 [GRCh38]
Chr13:33635463 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.2959G>A (p.Ala987Thr) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000358758] Chr13:33064106 [GRCh38]
Chr13:33638243 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2259G>A (p.Leu753=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000337438]|not provided [RCV002056376] Chr13:33061338 [GRCh38]
Chr13:33635475 [GRCh37]
Chr13:13q13.1
benign|uncertain significance
NM_004795.4(KL):c.1767C>T (p.His589=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000295187]|not provided [RCV001653530] Chr13:33060846 [GRCh38]
Chr13:33634983 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.967G>A (p.Val323Ile) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000261457]|not provided [RCV001850646] Chr13:33053914 [GRCh38]
Chr13:33628051 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2572T>A (p.Trp858Arg) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000298266] Chr13:33061651 [GRCh38]
Chr13:33635788 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*722T>C single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000282012] Chr13:33064908 [GRCh38]
Chr13:33639045 [GRCh37]
Chr13:13q13.1
likely benign|uncertain significance
NM_004795.4(KL):c.911A>G (p.Asn304Ser) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000300457]|not provided [RCV002056374] Chr13:33053858 [GRCh38]
Chr13:33627995 [GRCh37]
Chr13:13q13.1
likely benign|uncertain significance
NM_004795.4(KL):c.560C>T (p.Pro187Leu) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000368027] Chr13:33017000 [GRCh38]
Chr13:33591138 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.273T>C (p.Asp91=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000391867]|not provided [RCV001711922]|not specified [RCV000596364] Chr13:33016713 [GRCh38]
Chr13:33590851 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.1331-3C>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000322529] Chr13:33055044 [GRCh38]
Chr13:33629181 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1054T>G (p.Phe352Val) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000323675]|not provided [RCV001653529] Chr13:33054001 [GRCh38]
Chr13:33628138 [GRCh37]
Chr13:13q13.1
benign|likely benign
NM_004795.4(KL):c.*1664T>C single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000370436] Chr13:33065850 [GRCh38]
Chr13:33639987 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.595C>T (p.Arg199Cys) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000395494]|not provided [RCV002056373] Chr13:33017035 [GRCh38]
Chr13:33591173 [GRCh37]
Chr13:13q13.1
benign|likely benign
NM_004795.4(KL):c.1593C>T (p.Tyr531=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000325550]|not provided [RCV000957169] Chr13:33055309 [GRCh38]
Chr13:33629446 [GRCh37]
Chr13:13q13.1
benign|likely benign
NM_004795.4(KL):c.191G>A (p.Gly64Asp) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000347924] Chr13:33016631 [GRCh38]
Chr13:33590769 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1950C>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000262871] Chr13:33066136 [GRCh38]
Chr13:33640273 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.327G>C (p.Leu109=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000350746]|not provided [RCV002056371] Chr13:33016767 [GRCh38]
Chr13:33590905 [GRCh37]
Chr13:13q13.1
benign|uncertain significance
NM_004795.4(KL):c.*543G>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000374253] Chr13:33064729 [GRCh38]
Chr13:33638866 [GRCh37]
Chr13:13q13.1
benign|likely benign
NM_004795.4(KL):c.*1603C>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000274761] Chr13:33065789 [GRCh38]
Chr13:33639926 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*8C>T single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000309877] Chr13:33064194 [GRCh38]
Chr13:33638331 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*510C>T single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000331300] Chr13:33064696 [GRCh38]
Chr13:33638833 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.956C>T (p.Ser319Phe) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000353972] Chr13:33053903 [GRCh38]
Chr13:33628040 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.476A>G (p.Asn159Ser) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000402898]|not provided [RCV001850645] Chr13:33016916 [GRCh38]
Chr13:33591054 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.511C>A (p.Arg171Ser) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000310974]|not provided [RCV002056372] Chr13:33016951 [GRCh38]
Chr13:33591089 [GRCh37]
Chr13:13q13.1
likely benign|uncertain significance
NM_004795.4(KL):c.*1619T>C single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000311080] Chr13:33065805 [GRCh38]
Chr13:33639942 [GRCh37]
Chr13:13q13.1
benign|uncertain significance
NM_004795.4(KL):c.2557C>T (p.Arg853Cys) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000405196]|not provided [RCV001859868] Chr13:33061636 [GRCh38]
Chr13:33635773 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1455A>G single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000405535] Chr13:33065641 [GRCh38]
Chr13:33639778 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.1407T>C (p.Gly469=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000384055]|not provided [RCV002056375] Chr13:33055123 [GRCh38]
Chr13:33629260 [GRCh37]
Chr13:13q13.1
benign|likely benign
NM_004795.4(KL):c.1109G>C (p.Cys370Ser) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000362065]|not provided [RCV001723894] Chr13:33054056 [GRCh38]
Chr13:33628193 [GRCh37]
Chr13:13q13.1
benign|likely benign
NM_004795.4(KL):c.1811C>A (p.Pro604His) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000386046] Chr13:33060890 [GRCh38]
Chr13:33635027 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2619T>C (p.Asn873=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000341459]|not provided [RCV001690032] Chr13:33061698 [GRCh38]
Chr13:33635835 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.2626G>A (p.Asp876Asn) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000390682]|not provided [RCV001521792] Chr13:33061705 [GRCh38]
Chr13:33635842 [GRCh37]
Chr13:13q13.1
benign|uncertain significance
NM_004795.4(KL):c.*26T>G single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000362208] Chr13:33064212 [GRCh38]
Chr13:33638349 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1565T>C single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000364704] Chr13:33065751 [GRCh38]
Chr13:33639888 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1599+14C>G single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000382540] Chr13:33055329 [GRCh38]
Chr13:33629466 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1750T>C single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000316804] Chr13:33065936 [GRCh38]
Chr13:33640073 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*174A>G single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000332388] Chr13:33064360 [GRCh38]
Chr13:33638497 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1182T>C single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000403550] Chr13:33065368 [GRCh38]
Chr13:33639505 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*202_*205del deletion Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome [RCV000389314] Chr13:33064386..33064389 [GRCh38]
Chr13:33638523..33638526 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1509T>G single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000310039] Chr13:33065695 [GRCh38]
Chr13:33639832 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*771C>T single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000373234] Chr13:33064957 [GRCh38]
Chr13:33639094 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1007T>C single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000343089] Chr13:33065193 [GRCh38]
Chr13:33639330 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2245_2247delinsTCC (p.Ala749Ser) indel not provided [RCV000722361] Chr13:33061324..33061326 [GRCh38]
Chr13:33635461..33635463 [GRCh37]
Chr13:13q13.1
uncertain significance
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 copy number loss See cases [RCV000446067] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q12.3-13.1(chr13:32178877-33860144)x0 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000443876] Chr13:32178877..33860144 [GRCh37]
Chr13:13q12.3-13.1
drug response
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q12.3-13.1(chr13:31682663-33765790)x1 copy number loss See cases [RCV000511780] Chr13:31682663..33765790 [GRCh37]
Chr13:13q12.3-13.1
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626443] Chr13:24080918..34361992 [GRCh37]
Chr13:13q12.12-13.2
drug response
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1
pathogenic
NM_004795.4(KL):c.234del (p.Gly79fs) deletion not provided [RCV001964107] Chr13:33016674 [GRCh38]
Chr13:33590812 [GRCh37]
Chr13:13q13.1
uncertain significance
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
NM_004795.4(KL):c.2226C>T (p.Ser742=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114536] Chr13:33061305 [GRCh38]
Chr13:33635442 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1766T>G single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114741] Chr13:33065952 [GRCh38]
Chr13:33640089 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.614G>A (p.Gly205Asp) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114442]|not provided [RCV002069844] Chr13:33017054 [GRCh38]
Chr13:33591192 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.2702-1G>C single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000778393] Chr13:33063848 [GRCh38]
Chr13:33637985 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.369C>T (p.Asp123=) single nucleotide variant not provided [RCV000901328] Chr13:33016809 [GRCh38]
Chr13:33590947 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.607G>T (p.Ala203Ser) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114440]|not provided [RCV000881530] Chr13:33017047 [GRCh38]
Chr13:33591185 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.*203G>T single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114632] Chr13:33064389 [GRCh38]
Chr13:33638526 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1870G>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114742] Chr13:33066056 [GRCh38]
Chr13:33640193 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.747C>T (p.Ala249=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114444] Chr13:33017187 [GRCh38]
Chr13:33591325 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1860C>A (p.Arg620=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114533]|not provided [RCV002069845] Chr13:33060939 [GRCh38]
Chr13:33635076 [GRCh37]
Chr13:13q13.1
likely benign|uncertain significance
NM_004795.4(KL):c.1945C>T (p.Arg649Cys) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114535] Chr13:33061024 [GRCh38]
Chr13:33635161 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*93A>C single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114631] Chr13:33064279 [GRCh38]
Chr13:33638416 [GRCh37]
Chr13:13q13.1
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_004795.4(KL):c.*218G>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114633] Chr13:33064404 [GRCh38]
Chr13:33638541 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2702-59dup duplication Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000989099]|not provided [RCV001683709] Chr13:33063776..33063777 [GRCh38]
Chr13:33637913..33637914 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.450C>A (p.Ser150=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113059] Chr13:33016890 [GRCh38]
Chr13:33591028 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1419G>A (p.Arg473=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113165]|not provided [RCV002069825] Chr13:33055135 [GRCh38]
Chr13:33629272 [GRCh37]
Chr13:13q13.1
likely benign|uncertain significance
NM_004795.4(KL):c.1718T>C (p.Val573Ala) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113168] Chr13:33060797 [GRCh38]
Chr13:33634934 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2874T>G (p.Thr958=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113262] Chr13:33064021 [GRCh38]
Chr13:33638158 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2904C>T (p.Thr968=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113263]|not provided [RCV002069827] Chr13:33064051 [GRCh38]
Chr13:33638188 [GRCh37]
Chr13:13q13.1
likely benign|uncertain significance
NM_004795.4(KL):c.*1486T>C single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113365] Chr13:33065672 [GRCh38]
Chr13:33639809 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2057C>T (p.Thr686Met) single nucleotide variant not provided [RCV000995063] Chr13:33061136 [GRCh38]
Chr13:33635273 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1014C>A (p.Pro338=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001110412] Chr13:33053961 [GRCh38]
Chr13:33628098 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2296G>A (p.Gly766Ser) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001110491]|not provided [RCV001355482] Chr13:33061375 [GRCh38]
Chr13:33635512 [GRCh37]
Chr13:13q13.1
benign|likely benign|uncertain significance
NM_004795.4(KL):c.2532G>A (p.Gln844=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001110495]|not provided [RCV002067804] Chr13:33061611 [GRCh38]
Chr13:33635748 [GRCh37]
Chr13:13q13.1
benign|likely benign
NM_004795.4(KL):c.974G>T (p.Gly325Val) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001110411] Chr13:33053921 [GRCh38]
Chr13:33628058 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.326T>G (p.Leu109Arg) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111070]|not provided [RCV002069791] Chr13:33016766 [GRCh38]
Chr13:33590904 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.1105C>G (p.Leu369Val) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111156] Chr13:33054052 [GRCh38]
Chr13:33628189 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1188A>G (p.Gln396=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111157]|not provided [RCV002069794] Chr13:33054135 [GRCh38]
Chr13:33628272 [GRCh37]
Chr13:13q13.1
benign|uncertain significance
NM_004795.4(KL):c.2688C>T (p.Asn896=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111257]|not provided [RCV002069795] Chr13:33061767 [GRCh38]
Chr13:33635904 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.*793G>T single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001109002] Chr13:33064979 [GRCh38]
Chr13:33639116 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1599+205C>T single nucleotide variant not provided [RCV001534907] Chr13:33055520 [GRCh38]
Chr13:33629657 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.611A>G (p.Tyr204Cys) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114441] Chr13:33017051 [GRCh38]
Chr13:33591189 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.656A>T (p.Tyr219Phe) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114443] Chr13:33017096 [GRCh38]
Chr13:33591234 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.442C>T (p.Arg148Cys) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113058] Chr13:33016882 [GRCh38]
Chr13:33591020 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1557T>A (p.Phe519Leu) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113166] Chr13:33055273 [GRCh38]
Chr13:33629410 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2702-182C>T single nucleotide variant not provided [RCV001638772] Chr13:33063667 [GRCh38]
Chr13:33637804 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.2701+22T>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001730863]|not provided [RCV001598393] Chr13:33061802 [GRCh38]
Chr13:33635939 [GRCh37]
Chr13:13q13.1
benign
Single allele single nucleotide variant not provided [RCV001618090] Chr13:33016276 [GRCh38]
Chr13:33590414 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.1331-195A>G single nucleotide variant not provided [RCV001621434] Chr13:33054852 [GRCh38]
Chr13:33628989 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.*810G>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111349] Chr13:33064996 [GRCh38]
Chr13:33639133 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*853T>C single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111350] Chr13:33065039 [GRCh38]
Chr13:33639176 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1324A>G single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111351] Chr13:33065510 [GRCh38]
Chr13:33639647 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1347C>G single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111352] Chr13:33065533 [GRCh38]
Chr13:33639670 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.*466A>T single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001109000] Chr13:33064652 [GRCh38]
Chr13:33638789 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*587G>C single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001109001] Chr13:33064773 [GRCh38]
Chr13:33638910 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.426C>G (p.Leu142=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113057] Chr13:33016866 [GRCh38]
Chr13:33591004 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.15C>T (p.Ala5=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001110326]|not provided [RCV002067802] Chr13:33016455 [GRCh38]
Chr13:33590593 [GRCh37]
Chr13:13q13.1
likely benign|uncertain significance
NM_004795.4(KL):c.764C>T (p.Pro255Leu) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001110409] Chr13:33017204 [GRCh38]
Chr13:33591342 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.802G>A (p.Ala268Thr) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001110410] Chr13:33017242 [GRCh38]
Chr13:33591380 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2296G>C (p.Gly766Arg) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001110492]|not provided [RCV001856473] Chr13:33061375 [GRCh38]
Chr13:33635512 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2298C>G (p.Gly766=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001110493]|not provided [RCV002069784] Chr13:33061377 [GRCh38]
Chr13:33635514 [GRCh37]
Chr13:13q13.1
likely benign|uncertain significance
NM_004795.4(KL):c.2300C>G (p.Ser767Cys) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001110494] Chr13:33061379 [GRCh38]
Chr13:33635516 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.87C>T (p.Arg29=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111068]|not provided [RCV002069790] Chr13:33016527 [GRCh38]
Chr13:33590665 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.91C>T (p.Leu31=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111069]|not provided [RCV002067808] Chr13:33016531 [GRCh38]
Chr13:33590669 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.1331-4G>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111158] Chr13:33055043 [GRCh38]
Chr13:33629180 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1374G>C (p.Trp458Cys) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111159] Chr13:33055090 [GRCh38]
Chr13:33629227 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2571C>A (p.Asn857Lys) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111256]|not provided [RCV001856479] Chr13:33061650 [GRCh38]
Chr13:33635787 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1330+143T>G single nucleotide variant not provided [RCV001693290] Chr13:33054420 [GRCh38]
Chr13:33628557 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.820-79C>T single nucleotide variant not provided [RCV001609847] Chr13:33053688 [GRCh38]
Chr13:33627825 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.820-75T>G single nucleotide variant not provided [RCV001684838] Chr13:33053692 [GRCh38]
Chr13:33627829 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.820-236C>T single nucleotide variant not provided [RCV001692736] Chr13:33053531 [GRCh38]
Chr13:33627668 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.2702-110T>C single nucleotide variant not provided [RCV001666400] Chr13:33063739 [GRCh38]
Chr13:33637876 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.820-211G>A single nucleotide variant not provided [RCV001707059] Chr13:33053556 [GRCh38]
Chr13:33627693 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.1626C>T (p.Thr542=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113167]|not provided [RCV002069826] Chr13:33060705 [GRCh38]
Chr13:33634842 [GRCh37]
Chr13:13q13.1
likely benign|uncertain significance
NM_004795.4(KL):c.*17A>G single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113265] Chr13:33064203 [GRCh38]
Chr13:33638340 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.535C>T (p.Arg179Trp) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114439] Chr13:33016975 [GRCh38]
Chr13:33591113 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1848G>A (p.Leu616=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114531] Chr13:33060927 [GRCh38]
Chr13:33635064 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.393C>A (p.Asn131Lys) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113056]|not provided [RCV002069824] Chr13:33016833 [GRCh38]
Chr13:33590971 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.2995C>A (p.Leu999Ile) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113264]|not provided [RCV001862888] Chr13:33064142 [GRCh38]
Chr13:33638279 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1858C>T (p.Arg620Cys) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114532]|not provided [RCV001856506] Chr13:33060937 [GRCh38]
Chr13:33635074 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1873G>A (p.Glu625Lys) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114534]|not provided [RCV002069846] Chr13:33060952 [GRCh38]
Chr13:33635089 [GRCh37]
Chr13:13q13.1
likely benign|uncertain significance
NM_004795.4(KL):c.*263A>G single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114634] Chr13:33064449 [GRCh38]
Chr13:33638586 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*380A>G single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114635] Chr13:33064566 [GRCh38]
Chr13:33638703 [GRCh37]
Chr13:13q13.1
uncertain significance
GRCh37/hg19 13q12.3-13.2(chr13:28925153-34061696)x1 copy number loss not provided [RCV001537908] Chr13:28925153..34061696 [GRCh37]
Chr13:13q12.3-13.2
pathogenic
NM_004795.4(KL):c.820-46C>G single nucleotide variant not provided [RCV001539287] Chr13:33053721 [GRCh38]
Chr13:33627858 [GRCh37]
Chr13:13q13.1
benign
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
NM_004795.4(KL):c.370G>A (p.Val124Ile) single nucleotide variant not provided [RCV001358517] Chr13:33016810 [GRCh38]
Chr13:33590948 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1756C>T (p.Gln586Ter) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 1 [RCV001335191] Chr13:33060835 [GRCh38]
Chr13:33634972 [GRCh37]
Chr13:13q13.1
pathogenic
NM_004795.4(KL):c.820-144A>G single nucleotide variant not provided [RCV001617673] Chr13:33053623 [GRCh38]
Chr13:33627760 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.1331-39G>A single nucleotide variant not provided [RCV001680734] Chr13:33055008 [GRCh38]
Chr13:33629145 [GRCh37]
Chr13:13q13.1
benign
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
NM_004795.4(KL):c.1594A>G (p.Ile532Val) single nucleotide variant not provided [RCV002044032] Chr13:33055310 [GRCh38]
Chr13:33629447 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.304G>C (p.Gly102Arg) single nucleotide variant not provided [RCV001892480] Chr13:33016744 [GRCh38]
Chr13:33590882 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2534T>G (p.Val845Gly) single nucleotide variant Amenorrhea [RCV001849760] Chr13:33061613 [GRCh38]
Chr13:33635750 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2786G>A (p.Arg929His) single nucleotide variant not provided [RCV001948980] Chr13:33063933 [GRCh38]
Chr13:33638070 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2069C>T (p.Pro690Leu) single nucleotide variant not provided [RCV001929297] Chr13:33061148 [GRCh38]
Chr13:33635285 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1987G>A (p.Ala663Thr) single nucleotide variant not provided [RCV001984135] Chr13:33061066 [GRCh38]
Chr13:33635203 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1725T>G (p.Phe575Leu) single nucleotide variant not provided [RCV002005267] Chr13:33060804 [GRCh38]
Chr13:33634941 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.511C>T (p.Arg171Cys) single nucleotide variant not provided [RCV002009020] Chr13:33016951 [GRCh38]
Chr13:33591089 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.782C>T (p.Pro261Leu) single nucleotide variant not provided [RCV002021872] Chr13:33017222 [GRCh38]
Chr13:33591360 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.536G>A (p.Arg179Gln) single nucleotide variant not provided [RCV002039768] Chr13:33016976 [GRCh38]
Chr13:33591114 [GRCh37]
Chr13:13q13.1
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34
pathogenic
NM_004795.4(KL):c.1690G>A (p.Val564Met) single nucleotide variant not provided [RCV001967780] Chr13:33060769 [GRCh38]
Chr13:33634906 [GRCh37]
Chr13:13q13.1
uncertain significance
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217) copy number loss not specified [RCV002053048] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_004795.4(KL):c.2251A>G (p.Arg751Gly) single nucleotide variant Amenorrhea [RCV001849759] Chr13:33061330 [GRCh38]
Chr13:33635467 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1764G>T (p.Met588Ile) single nucleotide variant not provided [RCV001913861] Chr13:33060843 [GRCh38]
Chr13:33634980 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2513G>C (p.Trp838Ser) single nucleotide variant not provided [RCV001986842] Chr13:33061592 [GRCh38]
Chr13:33635729 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1393G>A (p.Glu465Lys) single nucleotide variant not provided [RCV002006709] Chr13:33055109 [GRCh38]
Chr13:33629246 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.684C>A (p.Gly228=) single nucleotide variant not provided [RCV001968514] Chr13:33017124 [GRCh38]
Chr13:33591262 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.257G>A (p.Gly86Asp) single nucleotide variant not provided [RCV001936627] Chr13:33016697 [GRCh38]
Chr13:33590835 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.316A>C (p.Asn106His) single nucleotide variant not provided [RCV001940207] Chr13:33016756 [GRCh38]
Chr13:33590894 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1331-9C>A single nucleotide variant not provided [RCV002001376] Chr13:33055038 [GRCh38]
Chr13:33629175 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1872C>T (p.Ser624=) single nucleotide variant not provided [RCV001943377] Chr13:33060951 [GRCh38]
Chr13:33635088 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.927C>T (p.Thr309=) single nucleotide variant not provided [RCV002037906] Chr13:33053874 [GRCh38]
Chr13:33628011 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.1805_1835del (p.Ile602fs) deletion not provided [RCV002017459] Chr13:33060883..33060913 [GRCh38]
Chr13:33635020..33635050 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.254A>G (p.Lys85Arg) single nucleotide variant not provided [RCV002037485] Chr13:33016694 [GRCh38]
Chr13:33590832 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.398T>A (p.Phe133Tyr) single nucleotide variant not provided [RCV001962305] Chr13:33016838 [GRCh38]
Chr13:33590976 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1373G>A (p.Trp458Ter) single nucleotide variant not provided [RCV001932180] Chr13:33055089 [GRCh38]
Chr13:33629226 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.379G>A (p.Asp127Asn) single nucleotide variant not provided [RCV001906553] Chr13:33016819 [GRCh38]
Chr13:33590957 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.4C>T (p.Pro2Ser) single nucleotide variant not provided [RCV002030484] Chr13:33016444 [GRCh38]
Chr13:33590582 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2245G>T (p.Ala749Ser) single nucleotide variant not provided [RCV001867377] Chr13:33061324 [GRCh38]
Chr13:33635461 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.806A>G (p.His269Arg) single nucleotide variant not provided [RCV001879124] Chr13:33017246 [GRCh38]
Chr13:33591384 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.944A>G (p.Glu315Gly) single nucleotide variant not provided [RCV001951927] Chr13:33053891 [GRCh38]
Chr13:33628028 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.644A>G (p.His215Arg) single nucleotide variant not provided [RCV002050921] Chr13:33017084 [GRCh38]
Chr13:33591222 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.58C>G (p.Leu20Val) single nucleotide variant not provided [RCV001933216] Chr13:33016498 [GRCh38]
Chr13:33590636 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.721dup (p.Tyr241fs) duplication not provided [RCV002011147] Chr13:33017160..33017161 [GRCh38]
Chr13:33591298..33591299 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1462TTG[1] (p.Leu489del) microsatellite not provided [RCV001931859] Chr13:33055176..33055178 [GRCh38]
Chr13:33629313..33629315 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2502C>T (p.Thr834=) single nucleotide variant not provided [RCV001867061] Chr13:33061581 [GRCh38]
Chr13:33635718 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.2758C>T (p.Arg920Cys) single nucleotide variant not provided [RCV002026778] Chr13:33063905 [GRCh38]
Chr13:33638042 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1008_1015dup (p.Glu339fs) duplication not provided [RCV001976784] Chr13:33053954..33053955 [GRCh38]
Chr13:33628091..33628092 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.859C>A (p.Arg287Ser) single nucleotide variant not provided [RCV002033775] Chr13:33053806 [GRCh38]
Chr13:33627943 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.544G>T (p.Glu182Ter) single nucleotide variant not provided [RCV002015546] Chr13:33016984 [GRCh38]
Chr13:33591122 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.46TCGCTG[3] (p.16SL[3]) microsatellite not provided [RCV001992744] Chr13:33016484..33016485 [GRCh38]
Chr13:33590622..33590623 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.550G>A (p.Gly184Ser) single nucleotide variant not provided [RCV002017335] Chr13:33016990 [GRCh38]
Chr13:33591128 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.7G>T (p.Ala3Ser) single nucleotide variant not provided [RCV001923748] Chr13:33016447 [GRCh38]
Chr13:33590585 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2702-3C>T single nucleotide variant not provided [RCV001923252] Chr13:33063846 [GRCh38]
Chr13:33637983 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.149C>T (p.Ala50Val) single nucleotide variant not provided [RCV001996875] Chr13:33016589 [GRCh38]
Chr13:33590727 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1882C>T (p.Arg628Cys) single nucleotide variant not provided [RCV001925421] Chr13:33060961 [GRCh38]
Chr13:33635098 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.638C>A (p.Ala213Asp) single nucleotide variant not provided [RCV001901664] Chr13:33017078 [GRCh38]
Chr13:33591216 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.738C>T (p.His246=) single nucleotide variant not provided [RCV002126990] Chr13:33017178 [GRCh38]
Chr13:33591316 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.807C>G (p.His269Gln) single nucleotide variant not provided [RCV002127002] Chr13:33017247 [GRCh38]
Chr13:33591385 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.819+17A>G single nucleotide variant not provided [RCV002091830] Chr13:33017276 [GRCh38]
Chr13:33591414 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.639C>G (p.Ala213=) single nucleotide variant not provided [RCV002087695] Chr13:33017079 [GRCh38]
Chr13:33591217 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.225G>A (p.Gln75=) single nucleotide variant not provided [RCV002071597] Chr13:33016665 [GRCh38]
Chr13:33590803 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.2811C>T (p.Pro937=) single nucleotide variant not provided [RCV002146630] Chr13:33063958 [GRCh38]
Chr13:33638095 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.585C>T (p.Asp195=) single nucleotide variant not provided [RCV002173479] Chr13:33017025 [GRCh38]
Chr13:33591163 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.813C>T (p.Leu271=) single nucleotide variant not provided [RCV002169346] Chr13:33017253 [GRCh38]
Chr13:33591391 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.1158C>T (p.Phe386=) single nucleotide variant not provided [RCV002195745] Chr13:33054105 [GRCh38]
Chr13:33628242 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.1371A>C (p.Ala457=) single nucleotide variant not provided [RCV002115776] Chr13:33055087 [GRCh38]
Chr13:33629224 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.2859C>T (p.Phe953=) single nucleotide variant not provided [RCV002196068] Chr13:33064006 [GRCh38]
Chr13:33638143 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.2682C>T (p.Tyr894=) single nucleotide variant not provided [RCV002094103] Chr13:33061761 [GRCh38]
Chr13:33635898 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.2040C>T (p.His680=) single nucleotide variant not provided [RCV002171175] Chr13:33061119 [GRCh38]
Chr13:33635256 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.1599+16A>C single nucleotide variant not provided [RCV002134494] Chr13:33055331 [GRCh38]
Chr13:33629468 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.1965C>T (p.Gly655=) single nucleotide variant not provided [RCV002124441] Chr13:33061044 [GRCh38]
Chr13:33635181 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.2589C>T (p.Tyr863=) single nucleotide variant not provided [RCV002076562] Chr13:33061668 [GRCh38]
Chr13:33635805 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.537G>C (p.Arg179=) single nucleotide variant not provided [RCV002188060] Chr13:33016977 [GRCh38]
Chr13:33591115 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.1788C>A (p.Ser596=) single nucleotide variant not provided [RCV002121648] Chr13:33060867 [GRCh38]
Chr13:33635004 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.819+14G>T single nucleotide variant not provided [RCV002137937] Chr13:33017273 [GRCh38]
Chr13:33591411 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.1005T>C (p.Gly335=) single nucleotide variant not provided [RCV002220507] Chr13:33053952 [GRCh38]
Chr13:33628089 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.820-18T>C single nucleotide variant not provided [RCV002121371] Chr13:33053749 [GRCh38]
Chr13:33627886 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.1160G>A (p.Arg387His) single nucleotide variant not provided [RCV002200440] Chr13:33054107 [GRCh38]
Chr13:33628244 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.292C>T (p.Leu98=) single nucleotide variant not provided [RCV002204515] Chr13:33016732 [GRCh38]
Chr13:33590870 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.486G>A (p.Ala162=) single nucleotide variant not provided [RCV002157050] Chr13:33016926 [GRCh38]
Chr13:33591064 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.2031C>T (p.Leu677=) single nucleotide variant not provided [RCV002184384] Chr13:33061110 [GRCh38]
Chr13:33635247 [GRCh37]
Chr13:13q13.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6344 AgrOrtholog
COSMIC KL COSMIC
Ensembl Genes ENSG00000133116 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000369442 ENTREZGENE
  ENSP00000369442.3 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000380099 ENTREZGENE
  ENST00000380099.4 UniProtKB/Swiss-Prot
GTEx ENSG00000133116 GTEx
HGNC ID HGNC:6344 ENTREZGENE
Human Proteome Map KL Human Proteome Map
InterPro Glyco_hydro_1 UniProtKB/Swiss-Prot
  Glyco_hydro_1_N_CS UniProtKB/Swiss-Prot
  Glycoside_hydrolase_SF UniProtKB/Swiss-Prot
  Klotho UniProtKB/Swiss-Prot
KEGG Report hsa:9365 UniProtKB/Swiss-Prot
NCBI Gene 9365 ENTREZGENE
OMIM 604824 OMIM
  617994 OMIM
PANTHER PTHR10353 UniProtKB/Swiss-Prot
  PTHR10353:SF10 UniProtKB/Swiss-Prot
Pfam Glyco_hydro_1 UniProtKB/Swiss-Prot
PharmGKB PA30130 PharmGKB
PRINTS GLHYDRLASE1 UniProtKB/Swiss-Prot
PROSITE GLYCOSYL_HYDROL_F1_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF51445 UniProtKB/Swiss-Prot
UniProt KLOT_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9Y4F0 ENTREZGENE
UniProt Secondary Q5VZ95 UniProtKB/Swiss-Prot
  Q96KV5 UniProtKB/Swiss-Prot
  Q96KW5 UniProtKB/Swiss-Prot
  Q9UEI9 UniProtKB/Swiss-Prot
  Q9Y4F0 UniProtKB/Swiss-Prot