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
Description: Exhibits fibroblast growth factor binding activity. Involved in aging and positive regulation of bone mineralization. Localizes to 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
Also known as: HFTC3
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
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1333,016,423 - 33,066,143 (+)EnsemblGRCh38hg38GRCh38
GRCh381333,016,063 - 33,066,143 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371333,590,571 - 33,640,282 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361332,488,571 - 32,538,279 (+)NCBINCBI36hg18NCBI36
Build 341332,488,570 - 32,538,279NCBI
Celera1314,657,386 - 14,707,106 (+)NCBI
Cytogenetic Map13q13.1NCBI
HuRef1314,401,659 - 14,452,070 (+)NCBIHuRef
CHM1_11333,558,119 - 33,607,832 (+)NCBICHM1_1
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)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4-hydroperoxycyclophosphamide  (ISO)
amino acid  (ISO)
ammonium chloride  (ISO)
androsterone 3-glucosiduronic acid  (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)
cyclosporin A  (EXP,ISO)
dehydroepiandrosterone  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (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)
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 chlorate  (EXP)
streptozocin  (ISO)
taurocholic acid  (ISO)
testosterone 17-glucosiduronic acid  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
valsartan  (ISO)
vancomycin  (ISO)
vitamin D  (EXP)
vitamin E  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Aizawa H, etal., Biochem Biophys Res Commun. 1998 Aug 28;249(3):865-71.
2. Arking DE, etal., Circ Res. 2005 Mar 4;96(4):412-8. Epub 2005 Jan 27.
3. 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. 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. Farinelli P, etal., J Neurochem. 2013 Dec;127(6):868-79. doi: 10.1111/jnc.12353. Epub 2013 Jul 22.
6. GOA_HUMAN data from the GO Consortium
7. Hofman-Bang J, etal., Kidney Int. 2010 Dec;78(11):1119-27. doi: 10.1038/ki.2010.215. Epub 2010 Jul 14.
8. Hu MC, etal., J Am Soc Nephrol. 2011 Jan;22(1):124-36. doi: 10.1681/ASN.2009121311. Epub 2010 Nov 29.
9. Huang KC, etal., Horm Metab Res. 2014 Apr;46(4):240-4. doi: 10.1055/s-0033-1357161. Epub 2013 Oct 17.
10. Imamura A, etal., Clin Chim Acta. 2006 Sep;371(1-2):66-70. Epub 2006 Mar 6.
11. Inoue S, etal., Shock. 2013 Mar;39(3):311-6. doi: 10.1097/SHK.0b013e3182845445.
12. Kim Y, etal., Neurosci Lett. 2006 Oct 30;407(3):189-94. Epub 2006 Sep 14.
13. Koh N, etal., Biochem Biophys Res Commun. 2001 Feb 2;280(4):1015-20.
14. Kuang X, etal., Neurobiol Aging. 2014 Jan;35(1):169-78. doi: 10.1016/j.neurobiolaging.2013.07.019. Epub 2013 Aug 21.
15. Kuro-o M, etal., Nature. 1997 Nov 6;390(6655):45-51.
16. Kurosu H, etal., J Biol Chem. 2006 Mar 10;281(10):6120-3. Epub 2006 Jan 25.
17. 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. Mitani H, etal., Hypertension 2002 Apr;39(4):838-43.
19. Nagai R, etal., Cell Mol Life Sci. 2000 May;57(5):738-46.
20. Ogata N, etal., Bone. 2002 Jul;31(1):37-42.
21. OMIM Disease Annotation Pipeline
22. Pipeline to import KEGG annotations from KEGG into RGD
23. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
24. RGD automated import pipeline for gene-chemical interactions
25. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
26. Rhee EJ, etal., Metabolism. 2006 Oct;55(10):1344-51.
27. Saito Y, etal., Biochem Biophys Res Commun. 2000 Sep 24;276(2):767-72.
28. Sugiura H, etal., Nephrol Dial Transplant. 2005 Dec;20(12):2636-45. Epub 2005 Oct 4.
29. Takeshita K, etal., Circulation. 2004 Apr 13;109(14):1776-82. Epub 2004 Mar 22.
30. Tanaka S, etal., J Thromb Haemost. 2005 Jan;3(1):68-73.
31. 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. Tsezou A, etal., J Orthop Res. 2008 Nov;26(11):1466-70. doi: 10.1002/jor.20634.
33. 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  
PMID:20140262   PMID:20345435   PMID:20379614   PMID:20394945   PMID:20466664   PMID:20482749   PMID:20628086   PMID:20654748   PMID:20685863   PMID:20686451   PMID:20800603   PMID:20832068  
PMID:20955350   PMID:21075474   PMID:21093413   PMID:21209102   PMID:21336305   PMID:21376714   PMID:21389697   PMID:21406293   PMID:21411554   PMID:21422754   PMID:21523445   PMID:21529984  
PMID:21543107   PMID:21565945   PMID:21571866   PMID:21663735   PMID:21671493   PMID:21695423   PMID:21734097   PMID:21769735   PMID:21818545   PMID:21832856   PMID:21852584   PMID:21859400  
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  
PMID:23000105   PMID:23123137   PMID:23147162   PMID:23176706   PMID:23180879   PMID:23235154   PMID:23248036   PMID:23334987   PMID:23337450   PMID:23360820   PMID:23376485   PMID:23431388  
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:24655788  
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:31187426   PMID:31324693   PMID:31390595   PMID:31430745  
PMID:31446221   PMID:31507133   PMID:31519772   PMID:31520610   PMID:31536138   PMID:31545552   PMID:31546756   PMID:31707148   PMID:31732843   PMID:32134975   PMID:32215890   PMID:32398866  
PMID:32444684   PMID:32509139   PMID:32581247   PMID:32729817  


Genomics

Candidate Gene Status
KL is a candidate Gene for QTL BMD8_H
Comparative Map Data
KL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1333,016,423 - 33,066,143 (+)EnsemblGRCh38hg38GRCh38
GRCh381333,016,063 - 33,066,143 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371333,590,571 - 33,640,282 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361332,488,571 - 32,538,279 (+)NCBINCBI36hg18NCBI36
Build 341332,488,570 - 32,538,279NCBI
Celera1314,657,386 - 14,707,106 (+)NCBI
Cytogenetic Map13q13.1NCBI
HuRef1314,401,659 - 14,452,070 (+)NCBIHuRef
CHM1_11333,558,119 - 33,607,832 (+)NCBICHM1_1
Kl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395150,876,072 - 150,917,282 (+)NCBIGRCm39mm39
GRCm385150,952,607 - 150,993,817 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5150,952,607 - 150,993,817 (+)EnsemblGRCm38mm10GRCm38
MGSCv375151,755,182 - 151,796,392 (+)NCBIGRCm37mm9NCBIm37
MGSCv365151,221,078 - 151,262,196 (+)NCBImm8
Celera5148,957,067 - 148,998,277 (+)NCBICelera
Cytogenetic Map5G3NCBI
Kl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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 (-)NCBIRGSC3.4rn4RGSC3.4
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_v0panPan3
KL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl257,156,620 - 7,199,558 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1257,154,359 - 7,201,744 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Kl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493647227,604,681 - 27,649,613 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl119,427,198 - 9,478,346 (+)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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1311,755,015 - 11,799,537 (+)NCBI
ChlSab1.1 Ensembl311,755,016 - 11,797,596 (+)Ensembl
Kl
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462491595,155 - 110,834 (+)NCBI

Position Markers
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

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.


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


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
Sequence:
RefSeq Acc Id: XM_006719895   ⟹   XP_006719958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381333,016,063 - 33,066,127 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004786   ⟸   NM_004795
- Peptide Label: precursor
- UniProtKB: Q9UEF7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006719958   ⟸   XM_006719895
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000369442   ⟸   ENST00000380099

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 Hyperphosphatemic familial tumoral calcinosis 1 [RCV000758698]|Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV001113055]|not provided [RCV000054737] Chr13:33016827 [GRCh38]
Chr13:33590965 [GRCh37]
Chr13:13q13.1
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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV000265097] Chr13:33054102 [GRCh38]
Chr13:33628239 [GRCh37]
Chr13:13q13.1
benign|likely benign
NM_004795.4(KL):c.2779C>T (p.Leu927Phe) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000301739] Chr13:33063926 [GRCh38]
Chr13:33638063 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1372T>A single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000346654] Chr13:33065558 [GRCh38]
Chr13:33639695 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*934T>A single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000285682] Chr13:33065120 [GRCh38]
Chr13:33639257 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1286A>G single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000303455] Chr13:33065472 [GRCh38]
Chr13:33639609 [GRCh37]
Chr13:13q13.1
benign|likely benign
NM_004795.4(KL):c.*32A>G single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV000288814] Chr13:33016760 [GRCh38]
Chr13:33590898 [GRCh37]
Chr13:13q13.1
benign|uncertain significance
NM_004795.4(KL):c.1780C>T (p.Arg594Cys) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000352375] Chr13:33060859 [GRCh38]
Chr13:33634996 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1894T>G single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV000290579] Chr13:33016580 [GRCh38]
Chr13:33590718 [GRCh37]
Chr13:13q13.1
benign|likely benign
NM_004795.4(KL):c.1540C>T (p.Pro514Ser) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000273254] Chr13:33055256 [GRCh38]
Chr13:33629393 [GRCh37]
Chr13:13q13.1
benign|likely benign
NM_004795.4(KL):c.*407T>C single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000273666] Chr13:33064593 [GRCh38]
Chr13:33638730 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.*735G>A single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000334750] Chr13:33064921 [GRCh38]
Chr13:33639058 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1728A>G single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV000294071] Chr13:33061326 [GRCh38]
Chr13:33635463 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.2959G>A (p.Ala987Thr) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV000337438] Chr13:33061338 [GRCh38]
Chr13:33635475 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1767C>T (p.His589=) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000295187] Chr13:33060846 [GRCh38]
Chr13:33634983 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.967G>A (p.Val323Ile) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000261457] Chr13:33053914 [GRCh38]
Chr13:33628051 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2572T>A (p.Trp858Arg) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000298266] Chr13:33061651 [GRCh38]
Chr13:33635788 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*722T>C single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV000300457] Chr13:33053858 [GRCh38]
Chr13:33627995 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.560C>T (p.Pro187Leu) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV000391867]|not specified [RCV000596364] Chr13:33016713 [GRCh38]
Chr13:33590851 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.1331-3C>A single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV000323675] Chr13:33054001 [GRCh38]
Chr13:33628138 [GRCh37]
Chr13:13q13.1
benign|likely benign
NM_004795.4(KL):c.*1664T>C single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV000395494] Chr13:33017035 [GRCh38]
Chr13:33591173 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.1593C>T (p.Tyr531=) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV000347924] Chr13:33016631 [GRCh38]
Chr13:33590769 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1950C>A single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV000350746] Chr13:33016767 [GRCh38]
Chr13:33590905 [GRCh37]
Chr13:13q13.1
benign|uncertain significance
NM_004795.4(KL):c.*543G>A single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000374253] Chr13:33064729 [GRCh38]
Chr13:33638866 [GRCh37]
Chr13:13q13.1
benign|likely benign
NM_004795.4(KL):c.*1603C>A single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000274761] Chr13:33065789 [GRCh38]
Chr13:33639926 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*8C>T single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000309877] Chr13:33064194 [GRCh38]
Chr13:33638331 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*510C>T single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV000402898] Chr13:33016916 [GRCh38]
Chr13:33591054 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.511C>A (p.Arg171Ser) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000310974] Chr13:33016951 [GRCh38]
Chr13:33591089 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1619T>C single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV000405196] Chr13:33061636 [GRCh38]
Chr13:33635773 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1455A>G single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV000384055] Chr13:33055123 [GRCh38]
Chr13:33629260 [GRCh37]
Chr13:13q13.1
benign|likely benign
NM_004795.4(KL):c.1109G>C (p.Cys370Ser) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000362065] Chr13:33054056 [GRCh38]
Chr13:33628193 [GRCh37]
Chr13:13q13.1
benign|likely benign
NM_004795.4(KL):c.1811C>A (p.Pro604His) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV000341459] Chr13:33061698 [GRCh38]
Chr13:33635835 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.2626G>A (p.Asp876Asn) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000390682] Chr13:33061705 [GRCh38]
Chr13:33635842 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*26T>G single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000362208] Chr13:33064212 [GRCh38]
Chr13:33638349 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1565T>C single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000364704] Chr13:33065751 [GRCh38]
Chr13:33639888 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1599+14C>G single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000382540] Chr13:33055329 [GRCh38]
Chr13:33629466 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1750T>C single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000316804] Chr13:33065936 [GRCh38]
Chr13:33640073 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*174A>G single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000332388] Chr13:33064360 [GRCh38]
Chr13:33638497 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1182T>C single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000403550] Chr13:33065368 [GRCh38]
Chr13:33639505 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*202_*205del deletion Tumoral calcinosis, hyperphosphatemic, familial [RCV000389314] Chr13:33064386..33064389 [GRCh38]
Chr13:33638523..33638526 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1509T>G single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000310039] Chr13:33065695 [GRCh38]
Chr13:33639832 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*771C>T single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV000373234] Chr13:33064957 [GRCh38]
Chr13:33639094 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1007T>C single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 PARP 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 PARP 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
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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV001114536] Chr13:33061305 [GRCh38]
Chr13:33635442 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1766T>G single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV001114442] Chr13:33017054 [GRCh38]
Chr13:33591192 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.2702-1G>C single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV001114632] Chr13:33064389 [GRCh38]
Chr13:33638526 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1870G>A single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV001114533] Chr13:33060939 [GRCh38]
Chr13:33635076 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1945C>T (p.Arg649Cys) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV001114535] Chr13:33061024 [GRCh38]
Chr13:33635161 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*93A>C single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV001114633] Chr13:33064404 [GRCh38]
Chr13:33638541 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2702-59dup duplication Hyperphosphatemic familial tumoral calcinosis 1 [RCV000989099] Chr13:33063776..33063777 [GRCh38]
Chr13:33637913..33637914 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.450C>A (p.Ser150=) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV001113165] Chr13:33055135 [GRCh38]
Chr13:33629272 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1718T>C (p.Val573Ala) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV001113263] Chr13:33064051 [GRCh38]
Chr13:33638188 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1486T>C single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV001110491] Chr13:33061375 [GRCh38]
Chr13:33635512 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.2532G>A (p.Gln844=) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV001110495] Chr13:33061611 [GRCh38]
Chr13:33635748 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.974G>T (p.Gly325Val) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV001111070] Chr13:33016766 [GRCh38]
Chr13:33590904 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.1105C>G (p.Leu369Val) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV001111157] Chr13:33054135 [GRCh38]
Chr13:33628272 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2688C>T (p.Asn896=) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV001111257] Chr13:33061767 [GRCh38]
Chr13:33635904 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.*793G>T single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV001109002] Chr13:33064979 [GRCh38]
Chr13:33639116 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.611A>G (p.Tyr204Cys) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV001113166] Chr13:33055273 [GRCh38]
Chr13:33629410 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*810G>A single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV001111349] Chr13:33064996 [GRCh38]
Chr13:33639133 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*853T>C single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV001111350] Chr13:33065039 [GRCh38]
Chr13:33639176 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1324A>G single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV001111351] Chr13:33065510 [GRCh38]
Chr13:33639647 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*1347C>G single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV001111352] Chr13:33065533 [GRCh38]
Chr13:33639670 [GRCh37]
Chr13:13q13.1
likely benign
NM_004795.4(KL):c.*466A>T single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV001109000] Chr13:33064652 [GRCh38]
Chr13:33638789 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*587G>C single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV001110326] Chr13:33016455 [GRCh38]
Chr13:33590593 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.764C>T (p.Pro255Leu) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV001110492] Chr13:33061375 [GRCh38]
Chr13:33635512 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2298C>G (p.Gly766=) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV001110493] Chr13:33061377 [GRCh38]
Chr13:33635514 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.2300C>G (p.Ser767Cys) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV001111068] Chr13:33016527 [GRCh38]
Chr13:33590665 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.91C>T (p.Leu31=) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV001111069] Chr13:33016531 [GRCh38]
Chr13:33590669 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.1331-4G>A single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV001111256] Chr13:33061650 [GRCh38]
Chr13:33635787 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1626C>T (p.Thr542=) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV001113167] Chr13:33060705 [GRCh38]
Chr13:33634842 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*17A>G single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 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 Hyperphosphatemic familial tumoral calcinosis 3 [RCV001113056] Chr13:33016833 [GRCh38]
Chr13:33590971 [GRCh37]
Chr13:13q13.1
benign
NM_004795.4(KL):c.2995C>A (p.Leu999Ile) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV001113264] Chr13:33064142 [GRCh38]
Chr13:33638279 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1858C>T (p.Arg620Cys) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV001114532] Chr13:33060937 [GRCh38]
Chr13:33635074 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.1873G>A (p.Glu625Lys) single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV001114534] Chr13:33060952 [GRCh38]
Chr13:33635089 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*263A>G single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV001114634] Chr13:33064449 [GRCh38]
Chr13:33638586 [GRCh37]
Chr13:13q13.1
uncertain significance
NM_004795.4(KL):c.*380A>G single nucleotide variant Hyperphosphatemic familial tumoral calcinosis 3 [RCV001114635] Chr13:33064566 [GRCh38]
Chr13:33638703 [GRCh37]
Chr13:13q13.1
uncertain significance

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, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000380099 ENTREZGENE, 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
UniProt Secondary Q5VZ95 UniProtKB/Swiss-Prot
  Q96KV5 UniProtKB/Swiss-Prot
  Q96KW5 UniProtKB/Swiss-Prot
  Q9UEI9 UniProtKB/Swiss-Prot
  Q9Y4F0 UniProtKB/Swiss-Prot