ILK (integrin linked kinase) - Rat Genome Database

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Advanced Search (OLGA)
Gene: ILK (integrin linked kinase) Homo sapiens
Analyze
Symbol: ILK
Name: integrin linked kinase
RGD ID: 732855
HGNC Page HGNC:6040
Description: Enables several functions, including ATP binding activity; integrin binding activity; and magnesium ion binding activity. Involved in several processes, including positive regulation of signal transduction; positive regulation of substrate adhesion-dependent cell spreading; and substrate adhesion-dependent cell spreading. Acts upstream of or within cell morphogenesis and integrin-mediated signaling pathway. Located in several cellular components, including centrosome; chromatin; and focal adhesion. Implicated in pancreatic cancer. Biomarker of ovarian cancer; prostate adenocarcinoma; and prostate cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 59 kDa serine/threonine-protein kinase; beta-integrin-linked kinase; DKFZp686F1765; epididymis secretory protein Li 28; HEL-S-28; ILK-1; ILK-2; integrin-linked kinase; integrin-linked kinase-2; integrin-linked protein kinase; P59; p59ILK
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38116,603,774 - 6,610,870 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl116,603,708 - 6,610,874 (+)EnsemblGRCh38hg38GRCh38
GRCh37116,625,004 - 6,632,101 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36116,581,540 - 6,588,677 (+)NCBINCBI36Build 36hg18NCBI36
Build 34116,581,587 - 6,588,673NCBI
Celera116,744,031 - 6,751,167 (+)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef116,283,875 - 6,291,037 (+)NCBIHuRef
CHM1_1116,623,840 - 6,631,006 (+)NCBICHM1_1
T2T-CHM13v2.0116,662,246 - 6,669,338 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2,6-dinitrotoluene  (ISO)
2-nitrotoluene  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
acetylsalicylic acid  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
azoxystrobin  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bromochloroacetic acid  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
cypermethrin  (ISO)
dexamethasone  (EXP)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
diethylstilbestrol  (EXP)
dioxygen  (ISO)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
ethyl trans-caffeate  (EXP)
flavonoids  (ISO)
FR900359  (EXP)
gemcitabine  (EXP)
genistein  (EXP)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
ivermectin  (EXP)
lead diacetate  (ISO)
linsidomine  (ISO)
Mizoribine  (ISO)
N-Vinyl-2-pyrrolidone  (ISO)
notoginsenoside R1  (ISO)
ouabain  (EXP)
paracetamol  (EXP)
phenobarbital  (ISO)
phenylephrine  (ISO)
picoxystrobin  (EXP)
pioglitazone  (EXP)
pirinixic acid  (EXP)
Propiverine  (ISO)
pyrimidifen  (EXP)
rotenone  (EXP)
selenium atom  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
sulindac  (EXP)
sunitinib  (EXP)
tamibarotene  (EXP)
tamoxifen  (EXP,ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
theophylline  (EXP)
triptonide  (ISO)
vitamin E  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
branching involved in ureteric bud morphogenesis  (IEA,ISO)
caveola assembly  (IEA)
cell differentiation  (IBA)
cell morphogenesis  (IMP)
cell population proliferation  (IEA,ISO)
cell projection organization  (IEA,ISO)
cell-matrix adhesion  (IBA,TAS)
establishment or maintenance of epithelial cell apical/basal polarity  (IEA,ISO)
fibroblast migration  (IEA,ISO)
integrin-mediated signaling pathway  (IBA,IDA,ISO)
mitotic spindle organization  (IMP)
myelination in peripheral nervous system  (IEA,ISO)
negative regulation of apoptotic process  (ISO)
negative regulation of cardiac muscle cell apoptotic process  (ISO)
negative regulation of neural precursor cell proliferation  (IEA,ISO)
negative regulation of neuron apoptotic process  (ISO)
negative regulation of protein kinase activity  (ISO)
negative regulation of smooth muscle cell migration  (ISO)
negative regulation of smooth muscle cell proliferation  (ISO)
nerve development  (IEA,ISO)
neural precursor cell proliferation  (IEA,ISO)
neuron projection morphogenesis  (ISO)
outflow tract morphogenesis  (IEA)
peptidyl-serine phosphorylation  (ISO)
phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IEA,ISO)
platelet aggregation  (HMP)
positive regulation of axon extension  (ISO)
positive regulation of axonogenesis  (ISO)
positive regulation of BMP signaling pathway  (IEA)
positive regulation of canonical NF-kappaB signal transduction  (IMP)
positive regulation of canonical Wnt signaling pathway  (IMP)
positive regulation of cell migration  (ISO)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of cell-matrix adhesion  (ISO)
positive regulation of cellular senescence  (ISO)
positive regulation of dendrite morphogenesis  (ISO)
positive regulation of DNA-templated transcription  (IMP)
positive regulation of MAP kinase activity  (ISO)
positive regulation of MAPK cascade  (ISO)
positive regulation of myoblast differentiation  (ISO)
positive regulation of osteoblast differentiation  (IEA)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (ISO)
positive regulation of signal transduction  (IMP)
positive regulation of substrate adhesion-dependent cell spreading  (IGI)
protein localization to cell cortex  (IEA)
protein phosphorylation  (ISO)
regulation of actin cytoskeleton organization  (ISO)
regulation of cell growth  (ISO)
Schwann cell development  (IEA,ISO)
substrate adhesion-dependent cell spreading  (IBA,IMP,ISO)
supramolecular fiber organization  (ISO)
tumor necrosis factor-mediated signaling pathway  (IMP)

Cellular Component

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Integrin-linked kinase expression increases with ovarian tumour grade and is sustained by peritoneal tumour fluid. Ahmed N, etal., J Pathol. 2003 Oct;201(2):229-37.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Integrin-linked kinase expression increases with prostate tumor grade. Graff JR, etal., Clin Cancer Res. 2001 Jul;7(7):1987-91.
4. Regulation of cell adhesion and anchorage-dependent growth by a new beta 1-integrin-linked protein kinase. Hannigan GE, etal., Nature. 1996 Jan 4;379(6560):91-6. doi: 10.1038/379091a0.
5. A comprehensive analysis of transcript signatures of the phosphatidylinositol-3 kinase/protein kinase B signal-transduction pathway in prostate cancer. Hellwinkel OJ, etal., BJU Int. 2008 Jun;101(11):1454-60. Epub 2008 Mar 11.
6. Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Jones S, etal., Science. 2008 Sep 26;321(5897):1801-6. Epub 2008 Sep 4.
7. ILK, PINCH and parvin: the tIPP of integrin signalling. Legate KR, etal., Nat Rev Mol Cell Biol. 2006 Jan;7(1):20-31.
8. Role of integrin-linked kinase in nerve growth factor-stimulated neurite outgrowth. Mills J, etal., J Neurosci. 2003 Mar 1;23(5):1638-48.
9. Integrin-linked kinase (ILK) binding to paxillin LD1 motif regulates ILK localization to focal adhesions. Nikolopoulos SN and Turner CE, J Biol Chem 2001 Jun 29;276(26):23499-505.
10. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
11. [Expression of integrin-linked kinase in prostate cancer and its significance] Qi XP, etal., Zhonghua Nan Ke Xue. 2005 Jan;11(1):34-7.
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. Mammary epithelial-specific expression of the integrin-linked kinase (ILK) results in the induction of mammary gland hyperplasias and tumors in transgenic mice. White DE, etal., Oncogene. 2001 Oct 25;20(48):7064-72.
Additional References at PubMed
PMID:9177792   PMID:9366252   PMID:9736715   PMID:9737788   PMID:10022929   PMID:10637513   PMID:10712922   PMID:10871859   PMID:11078733   PMID:11278835   PMID:11313365   PMID:11331308  
PMID:11331582   PMID:11402068   PMID:11445557   PMID:11546794   PMID:11694518   PMID:11696434   PMID:11724787   PMID:11825911   PMID:11856758   PMID:11931630   PMID:12020426   PMID:12020826  
PMID:12060675   PMID:12152651   PMID:12164932   PMID:12167643   PMID:12176337   PMID:12372433   PMID:12432066   PMID:12477932   PMID:12642872   PMID:12654898   PMID:12665801   PMID:12670870  
PMID:12686550   PMID:12771992   PMID:12778079   PMID:12884912   PMID:12925691   PMID:12960424   PMID:14551191   PMID:14555513   PMID:14679308   PMID:14749128   PMID:15044083   PMID:15073119  
PMID:15284246   PMID:15304053   PMID:15313908   PMID:15340074   PMID:15467740   PMID:15489334   PMID:15565145   PMID:15722199   PMID:15802621   PMID:15817463   PMID:15867245   PMID:15882985  
PMID:15905178   PMID:16189514   PMID:16407822   PMID:16421303   PMID:16517730   PMID:16611685   PMID:16648553   PMID:16712791   PMID:16799642   PMID:16818815   PMID:16836071   PMID:16936772  
PMID:16951248   PMID:16987993   PMID:17003112   PMID:17088456   PMID:17107957   PMID:17143519   PMID:17187779   PMID:17213807   PMID:17298394   PMID:17335036   PMID:17353931   PMID:17420447  
PMID:17468516   PMID:17498677   PMID:17526737   PMID:17553790   PMID:17563721   PMID:17575101   PMID:17646580   PMID:17656471   PMID:17951996   PMID:18037995   PMID:18080083   PMID:18214046  
PMID:18252715   PMID:18283114   PMID:18327965   PMID:18339839   PMID:18464290   PMID:18505933   PMID:18635968   PMID:18660489   PMID:18727519   PMID:18773488   PMID:18813944   PMID:18823942  
PMID:19020711   PMID:19074270   PMID:19117955   PMID:19118217   PMID:19118218   PMID:19147542   PMID:19153670   PMID:19299420   PMID:19334037   PMID:19409087   PMID:19463178   PMID:19478459  
PMID:19489119   PMID:19541809   PMID:19567202   PMID:19633364   PMID:19676046   PMID:19738201   PMID:19829382   PMID:19885839   PMID:19946888   PMID:20005845   PMID:20018240   PMID:20091050  
PMID:20113654   PMID:20164304   PMID:20232298   PMID:20305688   PMID:20460506   PMID:20467437   PMID:20493167   PMID:20495362   PMID:20546345   PMID:20625942   PMID:20827300   PMID:20838383  
PMID:20838384   PMID:20857141   PMID:20926685   PMID:21035499   PMID:21084641   PMID:21145461   PMID:21177334   PMID:21196412   PMID:21234586   PMID:21278793   PMID:21339732   PMID:21343177  
PMID:21347395   PMID:21351095   PMID:21423176   PMID:21516116   PMID:21521694   PMID:21524996   PMID:21553049   PMID:21601006   PMID:21602880   PMID:21621326   PMID:21639857   PMID:21643011  
PMID:21680733   PMID:21688303   PMID:21719054   PMID:21778429   PMID:21828040   PMID:21873635   PMID:21900206   PMID:21928230   PMID:21939655   PMID:21941415   PMID:21988832   PMID:22194624  
PMID:22268729   PMID:22310280   PMID:22340785   PMID:22345562   PMID:22441983   PMID:22482400   PMID:22490953   PMID:22568984   PMID:22570869   PMID:22616551   PMID:22638656   PMID:22658674  
PMID:22658851   PMID:22666394   PMID:22677169   PMID:22683084   PMID:22763012   PMID:22767580   PMID:22814720   PMID:22863883   PMID:22938462   PMID:22939624   PMID:23027626   PMID:23065574  
PMID:23108908   PMID:23186335   PMID:23382103   PMID:23414517   PMID:23435415   PMID:23455922   PMID:23624332   PMID:23667531   PMID:23703635   PMID:23707970   PMID:23729269   PMID:23739974  
PMID:23747271   PMID:23748822   PMID:23783575   PMID:23784942   PMID:23801886   PMID:23832543   PMID:23863169   PMID:23877428   PMID:24040439   PMID:24045896   PMID:24064223   PMID:24260102  
PMID:24299190   PMID:24356468   PMID:24360977   PMID:24789658   PMID:24911651   PMID:25036637   PMID:25086068   PMID:25160619   PMID:25208486   PMID:25218472   PMID:25398317   PMID:25416956  
PMID:25502805   PMID:25657336   PMID:25738875   PMID:25759370   PMID:25760437   PMID:25805567   PMID:25852190   PMID:25964055   PMID:25998224   PMID:26172215   PMID:26176204   PMID:26186194  
PMID:26210487   PMID:26344197   PMID:26460618   PMID:26467393   PMID:26496610   PMID:26531674   PMID:26549818   PMID:26616862   PMID:26693891   PMID:26837762   PMID:26887611   PMID:26959113  
PMID:26972000   PMID:27034956   PMID:27090767   PMID:27099440   PMID:27111285   PMID:27130230   PMID:27315599   PMID:27432908   PMID:27503933   PMID:27539661   PMID:27576342   PMID:27591049  
PMID:27683053   PMID:28069177   PMID:28097141   PMID:28138714   PMID:28188308   PMID:28319085   PMID:28339614   PMID:28514442   PMID:28515276   PMID:28522687   PMID:28546219   PMID:28791358  
PMID:28893556   PMID:28986522   PMID:29117863   PMID:29237230   PMID:29309873   PMID:29309923   PMID:29409901   PMID:29467282   PMID:29496692   PMID:29608014   PMID:29695398   PMID:29787808  
PMID:30182767   PMID:30232004   PMID:30254023   PMID:30367047   PMID:30471916   PMID:30473379   PMID:30518533   PMID:30575914   PMID:30802431   PMID:30907484   PMID:30940648   PMID:31091453  
PMID:31515488   PMID:31578224   PMID:31586073   PMID:31617661   PMID:31630411   PMID:31748531   PMID:31785406   PMID:31871319   PMID:31897228   PMID:31980649   PMID:32296183   PMID:32305668  
PMID:32495257   PMID:32506247   PMID:32592097   PMID:32687490   PMID:32694731   PMID:32707033   PMID:32786267   PMID:32945993   PMID:32994395   PMID:33008805   PMID:33144569   PMID:33587032  
PMID:33644029   PMID:33658012   PMID:33671549   PMID:33879841   PMID:33961781   PMID:34189442   PMID:34278436   PMID:34373451   PMID:34591612   PMID:34921014   PMID:35032548   PMID:35089438  
PMID:35154481   PMID:35246616   PMID:35256949   PMID:35271311   PMID:35429970   PMID:35509820   PMID:35545034   PMID:35563538   PMID:35831314   PMID:35944360   PMID:36114006   PMID:36215168  
PMID:36359821   PMID:36543142   PMID:36634849   PMID:36732940   PMID:36736316   PMID:36931259   PMID:37120454   PMID:37249651   PMID:37314216   PMID:37357686   PMID:37827155   PMID:38077324  
PMID:38165590   PMID:38734696  


Genomics

Comparative Map Data
ILK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38116,603,774 - 6,610,870 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl116,603,708 - 6,610,874 (+)EnsemblGRCh38hg38GRCh38
GRCh37116,625,004 - 6,632,101 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36116,581,540 - 6,588,677 (+)NCBINCBI36Build 36hg18NCBI36
Build 34116,581,587 - 6,588,673NCBI
Celera116,744,031 - 6,751,167 (+)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef116,283,875 - 6,291,037 (+)NCBIHuRef
CHM1_1116,623,840 - 6,631,006 (+)NCBICHM1_1
T2T-CHM13v2.0116,662,246 - 6,669,338 (+)NCBIT2T-CHM13v2.0
Ilk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397105,385,797 - 105,392,132 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7105,385,799 - 105,392,132 (+)EnsemblGRCm39 Ensembl
GRCm387105,736,590 - 105,742,925 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7105,736,592 - 105,742,925 (+)EnsemblGRCm38mm10GRCm38
MGSCv377112,885,104 - 112,891,439 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367105,610,569 - 105,616,743 (+)NCBIMGSCv36mm8
Celera7106,007,890 - 106,014,225 (+)NCBICelera
Cytogenetic Map7E3NCBI
cM Map755.97NCBI
Ilk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81169,500,716 - 169,506,972 (+)NCBIGRCr8
mRatBN7.21160,088,839 - 160,095,140 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1160,088,897 - 160,095,140 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1168,111,452 - 168,117,707 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01175,297,450 - 175,303,706 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01168,199,208 - 168,205,462 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01170,578,941 - 170,585,192 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1170,578,889 - 170,585,189 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01177,584,793 - 177,591,044 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41163,481,299 - 163,487,550 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11163,576,775 - 163,583,027 (+)NCBI
Celera1158,020,986 - 158,027,237 (+)NCBICelera
Cytogenetic Map1q32NCBI
Ilk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541422,316,047 - 22,322,979 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541422,316,243 - 22,322,979 (+)NCBIChiLan1.0ChiLan1.0
ILK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v299,041,409 - 9,048,059 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1119,005,236 - 9,011,879 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0116,735,735 - 6,742,922 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1116,418,717 - 6,425,788 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl116,418,717 - 6,425,788 (+)Ensemblpanpan1.1panPan2
ILK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12129,911,326 - 29,917,972 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2129,911,364 - 29,917,974 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2129,613,150 - 29,619,814 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02130,737,472 - 30,744,133 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2130,737,533 - 30,744,128 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12130,058,249 - 30,064,907 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02130,223,907 - 30,230,574 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02130,419,226 - 30,425,893 (+)NCBIUU_Cfam_GSD_1.0
Ilk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494756,007,496 - 56,013,566 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936842661,996 - 667,993 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936842661,961 - 667,993 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ILK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl93,145,608 - 3,159,858 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.193,145,647 - 3,152,097 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.293,803,434 - 3,810,297 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ILK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1158,214,630 - 58,221,770 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl158,213,310 - 58,221,217 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038156,040,403 - 156,047,520 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ilk
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248178,096,898 - 8,106,683 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248178,096,539 - 8,103,096 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ILK
376 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004517.4(ILK):c.206C>T (p.Thr69Ile) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000529247] Chr11:6608162 [GRCh38]
Chr11:6629392 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1252T>C (p.Ser418Pro) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000547062] Chr11:6610504 [GRCh38]
Chr11:6631735 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.785C>T (p.Ala262Val) single nucleotide variant Variant of unknown significance [RCV000043520] Chr11:6609568 [GRCh38]
Chr11:6630799 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh38/hg38 11p15.4(chr11:3745061-7846057)x3 copy number gain See cases [RCV000053616] Chr11:3745061..7846057 [GRCh38]
Chr11:3766291..7867604 [GRCh37]
Chr11:3722867..7824180 [NCBI36]
Chr11:11p15.4		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
NM_004517.4(ILK):c.1020C>T (p.Val340=) single nucleotide variant not provided [RCV000122481] Chr11:6609977 [GRCh38]
Chr11:6631208 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.297C>T (p.His99=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001516882]|not provided [RCV004718001]|not specified [RCV000125415] Chr11:6608435 [GRCh38]
Chr11:6629665 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_004517.4(ILK):c.-108T>C single nucleotide variant not specified [RCV000125416] Chr11:6603807 [GRCh38]
Chr11:6625037 [GRCh37]
Chr11:11p15.4		 benign
NM_004517.4(ILK):c.819G>A (p.Pro273=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001516883]|not provided [RCV004718002]|not specified [RCV000125417] Chr11:6609602 [GRCh38]
Chr11:6630833 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_004517.4(ILK):c.918C>T (p.Ala306=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001513851]|not provided [RCV004718003]|not specified [RCV000125418] Chr11:6609785 [GRCh38]
Chr11:6631016 [GRCh37]
Chr11:11p15.4		 benign
NM_004517.4(ILK):c.1079-18C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002055571]|not provided [RCV004718004]|not specified [RCV000125419] Chr11:6610130 [GRCh38]
Chr11:6631361 [GRCh37]
Chr11:11p15.4		 benign
NM_004517.4(ILK):c.211del (p.Leu71fs) deletion not specified [RCV000190598] Chr11:6608162 [GRCh38]
Chr11:6629392 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.86dup (p.Asp31fs) duplication Primary familial hypertrophic cardiomyopathy [RCV000143900] Chr11:6604356..6604357 [GRCh38]
Chr11:6625586..6625587 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.631C>T (p.Arg211Cys) single nucleotide variant ILK-related disorder [RCV003905245]|Primary familial hypertrophic cardiomyopathy [RCV000143901]|not provided [RCV001529362]|not specified [RCV000183461] Chr11:6609311 [GRCh38]
Chr11:6630542 [GRCh37]
Chr11:11p15.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
GRCh38/hg38 11p15.4(chr11:6261582-6637999)x3 copy number gain See cases [RCV000136804] Chr11:6261582..6637999 [GRCh38]
Chr11:6282812..6659230 [GRCh37]
Chr11:6239388..6615806 [NCBI36]
Chr11:11p15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
NM_004517.4(ILK):c.157T>A (p.Leu53Met) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000157246]|not provided [RCV000757406] Chr11:6608113 [GRCh38]
Chr11:6629343 [GRCh37]
Chr11:11p15.4		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004517.4(ILK):c.962A>G (p.Asn321Ser) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000157247]|not specified [RCV004019896] Chr11:6609829 [GRCh38]
Chr11:6631060 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1180G>A (p.Asp394Asn) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000157248] Chr11:6610249 [GRCh38]
Chr11:6631480 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.435A>C (p.Arg145Ser) single nucleotide variant ILK-related disorder [RCV003907639]|Primary familial hypertrophic cardiomyopathy [RCV000472252]|not specified [RCV000183454] Chr11:6608777 [GRCh38]
Chr11:6630007 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_004517.4(ILK):c.448+12del deletion Cardiomyopathy [RCV000183455]|not specified [RCV000611093] Chr11:6608799 [GRCh38]
Chr11:6630029 [GRCh37]
Chr11:11p15.4		 benign|no classifications from unflagged records
NM_004517.3(ILK):c.1081C>T (p.Leu361=) single nucleotide variant Cardiomyopathy [RCV000183456] Chr11:6610150 [GRCh38]
Chr11:6631381 [GRCh37]
Chr11:11p15.4		 benign
NM_004517.4(ILK):c.65A>G (p.Asn22Ser) single nucleotide variant Cardiomyopathy [RCV000852646]|ILK-related disorder [RCV003927713]|Primary familial hypertrophic cardiomyopathy [RCV000227217]|not provided [RCV001529459]|not specified [RCV000183457] Chr11:6604336 [GRCh38]
Chr11:6625566 [GRCh37]
Chr11:11p15.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004517.4(ILK):c.175C>T (p.Arg59Trp) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000706695]|not provided [RCV000183459] Chr11:6608131 [GRCh38]
Chr11:6629361 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.184G>A (p.Val62Ile) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001305619]|not provided [RCV000183460]|not specified [RCV004020215] Chr11:6608140 [GRCh38]
Chr11:6629370 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.669G>T (p.Lys223Asn) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001088134]|not provided [RCV000183462] Chr11:6609349 [GRCh38]
Chr11:6630580 [GRCh37]
Chr11:11p15.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004517.4(ILK):c.337G>T (p.Asp113Tyr) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000546414] Chr11:6608475 [GRCh38]
Chr11:6629705 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.446G>A (p.Arg149Gln) single nucleotide variant Long QT syndrome [RCV000208422]|Primary familial hypertrophic cardiomyopathy [RCV001211006]|not provided [RCV000520010]|not specified [RCV004020557] Chr11:6608788 [GRCh38]
Chr11:6630018 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.734T>A (p.Phe245Tyr) single nucleotide variant Primary dilated cardiomyopathy [RCV000208000] Chr11:6609517 [GRCh38]
Chr11:6630748 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.618+10G>A single nucleotide variant not specified [RCV000215415] Chr11:6609166 [GRCh38]
Chr11:6630397 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.857-12G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002057111]|not provided [RCV004705046]|not specified [RCV000217112] Chr11:6609712 [GRCh38]
Chr11:6630943 [GRCh37]
Chr11:11p15.4		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004517.4(ILK):c.252G>A (p.Gln84=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001393025]|not provided [RCV001640335]|not specified [RCV000217512] Chr11:6608208 [GRCh38]
Chr11:6629438 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.778C>T (p.Pro260Ser) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000692720]|not specified [RCV000214294] Chr11:6609561 [GRCh38]
Chr11:6630792 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.532+14G>A single nucleotide variant not specified [RCV000221726] Chr11:6608981 [GRCh38]
Chr11:6630212 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.619-6C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000233448]|not provided [RCV001092690]|not specified [RCV004020814] Chr11:6609293 [GRCh38]
Chr11:6630524 [GRCh37]
Chr11:11p15.4		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004517.4(ILK):c.728+13G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002529575]|not specified [RCV000604365] Chr11:6609421 [GRCh38]
Chr11:6630652 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.707A>G (p.Asn236Ser) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001084716]|not provided [RCV000757407] Chr11:6609387 [GRCh38]
Chr11:6630618 [GRCh37]
Chr11:11p15.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004517.4(ILK):c.887A>C (p.Lys296Thr) single nucleotide variant not provided [RCV002292831] Chr11:6609754 [GRCh38]
Chr11:6630985 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.864C>T (p.Val288=) single nucleotide variant ILK-related disorder [RCV003917955]|Primary familial hypertrophic cardiomyopathy [RCV000868778]|not specified [RCV000605278] Chr11:6609731 [GRCh38]
Chr11:6630962 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_004517.4(ILK):c.601G>A (p.Glu201Lys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000811938]|not specified [RCV000414750] Chr11:6609139 [GRCh38]
Chr11:6630370 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.458A>G (p.Glu153Gly) single nucleotide variant not provided [RCV001574022] Chr11:6608893 [GRCh38]
Chr11:6630124 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_004517.4(ILK):c.36C>T (p.Asn12=) single nucleotide variant ILK-related disorder [RCV003905378]|Primary familial hypertrophic cardiomyopathy [RCV000558663]|not specified [RCV004023899] Chr11:6604307 [GRCh38]
Chr11:6625537 [GRCh37]
Chr11:11p15.4		 benign|likely benign
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_004517.4(ILK):c.729-7C>A single nucleotide variant ILK-related disorder [RCV003912706]|Primary familial hypertrophic cardiomyopathy [RCV000475855]|not provided [RCV001703864] Chr11:6609505 [GRCh38]
Chr11:6630736 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.219G>C (p.Leu73=) single nucleotide variant not specified [RCV000431078] Chr11:6608175 [GRCh38]
Chr11:6629405 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.600C>T (p.Asn200=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002063510]|not specified [RCV000431303] Chr11:6609138 [GRCh38]
Chr11:6630369 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1296C>T (p.Asp432=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001451602]|not specified [RCV000441662] Chr11:6610548 [GRCh38]
Chr11:6631779 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.-109C>T single nucleotide variant not specified [RCV000427901] Chr11:6603806 [GRCh38]
Chr11:6625036 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1079-14C>A single nucleotide variant not specified [RCV000438289] Chr11:6610134 [GRCh38]
Chr11:6631365 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.255+10A>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001453520]|not provided [RCV001704332] Chr11:6608221 [GRCh38]
Chr11:6629451 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.*2A>G single nucleotide variant not specified [RCV000424618] Chr11:6610613 [GRCh38]
Chr11:6631844 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.-113G>T single nucleotide variant not specified [RCV000435740] Chr11:6603802 [GRCh38]
Chr11:6625032 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.-105A>G single nucleotide variant not specified [RCV000435756] Chr11:6603810 [GRCh38]
Chr11:6625040 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.282T>C (p.Asn94=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000638618]|not provided [RCV001703546]|not specified [RCV004022307] Chr11:6608420 [GRCh38]
Chr11:6629650 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_004517.4(ILK):c.279C>A (p.Ile93=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001504425]|not specified [RCV000429587] Chr11:6608417 [GRCh38]
Chr11:6629647 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.351+10C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001460751]|not specified [RCV000436407] Chr11:6608499 [GRCh38]
Chr11:6629729 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.351+19A>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002059743]|not specified [RCV000422672] Chr11:6608508 [GRCh38]
Chr11:6629738 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.89+3G>A single nucleotide variant not provided [RCV000429863] Chr11:6604363 [GRCh38]
Chr11:6625593 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.255+4C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000476681]|not provided [RCV001721370] Chr11:6608215 [GRCh38]
Chr11:6629445 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_004517.4(ILK):c.1197G>A (p.Glu399=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002521738]|not specified [RCV000426597] Chr11:6610266 [GRCh38]
Chr11:6631497 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.12T>A (p.Ile4=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002521810]|not specified [RCV000437389] Chr11:6604283 [GRCh38]
Chr11:6625513 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.277A>G (p.Ile93Val) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002526513]|not provided [RCV000482953]|not specified [RCV004023107] Chr11:6608415 [GRCh38]
Chr11:6629645 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.130G>C (p.Glu44Gln) single nucleotide variant ILK-related disorder [RCV003403155]|Primary familial hypertrophic cardiomyopathy [RCV000555076]|not provided [RCV000497634] Chr11:6608086 [GRCh38]
Chr11:6629316 [GRCh37]
Chr11:11p15.4		 likely pathogenic|uncertain significance
NM_004517.4(ILK):c.146T>C (p.Val49Ala) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003621543]|not provided [RCV000498513] Chr11:6608102 [GRCh38]
Chr11:6629332 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
NM_004517.4(ILK):c.1112G>A (p.Arg371His) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001865539]|not provided [RCV000494130] Chr11:6610181 [GRCh38]
Chr11:6631412 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_004517.4(ILK):c.1258C>T (p.His420Tyr) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000638615] Chr11:6610510 [GRCh38]
Chr11:6631741 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.468C>A (p.Gly156=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000638617]|not specified [RCV004025519] Chr11:6608903 [GRCh38]
Chr11:6630134 [GRCh37]
Chr11:11p15.4		 likely benign
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3		 pathogenic
NM_004517.4(ILK):c.504C>G (p.Phe168Leu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000638616] Chr11:6608939 [GRCh38]
Chr11:6630170 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1090A>C (p.Lys364Gln) single nucleotide variant not specified [RCV004331672] Chr11:6610159 [GRCh38]
Chr11:6631390 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.864C>G (p.Val288=) single nucleotide variant not specified [RCV004331674] Chr11:6609731 [GRCh38]
Chr11:6630962 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.78C>A (p.Asp26Glu) single nucleotide variant not specified [RCV004331675] Chr11:6604349 [GRCh38]
Chr11:6625579 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1285A>G (p.Met429Val) single nucleotide variant not specified [RCV000601675] Chr11:6610537 [GRCh38]
Chr11:6631768 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1079-8C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001860260]|not specified [RCV000610031] Chr11:6610140 [GRCh38]
Chr11:6631371 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_004517.4(ILK):c.979-17dup duplication Primary familial hypertrophic cardiomyopathy [RCV003621559]|not specified [RCV000615494] Chr11:6609918..6609919 [GRCh38]
Chr11:6631149..6631150 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.222A>T (p.Ala74=) single nucleotide variant not specified [RCV000608102] Chr11:6608178 [GRCh38]
Chr11:6629408 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.-16G>A single nucleotide variant not specified [RCV000611177] Chr11:6604256 [GRCh38]
Chr11:6625486 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.632G>A (p.Arg211His) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001236813]|not specified [RCV000609112] Chr11:6609312 [GRCh38]
Chr11:6630543 [GRCh37]
Chr11:11p15.4		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004517.4(ILK):c.503T>G (p.Phe168Cys) single nucleotide variant Cardiovascular phenotype [RCV000619469]|Primary familial hypertrophic cardiomyopathy [RCV001506166] Chr11:6608938 [GRCh38]
Chr11:6630169 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_004517.4(ILK):c.580A>G (p.Asn194Asp) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000638614]|not specified [RCV004025518] Chr11:6609118 [GRCh38]
Chr11:6630349 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
NM_004517.4(ILK):c.521G>A (p.Arg174His) single nucleotide variant Cardiovascular phenotype [RCV000621572]|Primary familial hypertrophic cardiomyopathy [RCV001351095] Chr11:6608956 [GRCh38]
Chr11:6630187 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_004517.4(ILK):c.1353C>G (p.Asp451Glu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000701076] Chr11:6610605 [GRCh38]
Chr11:6631836 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1		 pathogenic
NM_004517.4(ILK):c.223G>C (p.Ala75Pro) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000690520] Chr11:6608179 [GRCh38]
Chr11:6629409 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NC_000011.10:g.6603668G>A single nucleotide variant not provided [RCV001692671] Chr11:6603668 [GRCh38]
Chr11:6624898 [GRCh37]
Chr11:11p15.4		 benign
NC_000011.10:g.6603573A>G single nucleotide variant not provided [RCV001766313] Chr11:6603573 [GRCh38]
Chr11:6624803 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.452G>A (p.Arg151Gln) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001054638] Chr11:6608887 [GRCh38]
Chr11:6630118 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.90-5C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001504053] Chr11:6608041 [GRCh38]
Chr11:6629271 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.352-9T>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000866152] Chr11:6608685 [GRCh38]
Chr11:6629915 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.501A>G (p.Thr167=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001432842]|not specified [RCV004029761] Chr11:6608936 [GRCh38]
Chr11:6630167 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.428C>T (p.Pro143Leu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001066281] Chr11:6608770 [GRCh38]
Chr11:6630000 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1046G>A (p.Arg349His) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001071863] Chr11:6610003 [GRCh38]
Chr11:6631234 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.386G>C (p.Cys129Ser) single nucleotide variant not provided [RCV000786321] Chr11:6608728 [GRCh38]
Chr11:6629958 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.234A>G (p.Gly78=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001435791]|not provided [RCV000826924] Chr11:6608190 [GRCh38]
Chr11:6629420 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.708T>C (p.Asn236=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001476490]|not specified [RCV004029696] Chr11:6609388 [GRCh38]
Chr11:6630619 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.93C>T (p.Asp31=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002064477] Chr11:6608049 [GRCh38]
Chr11:6629279 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1306C>T (p.Arg436Ter) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000810048] Chr11:6610558 [GRCh38]
Chr11:6631789 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.255+89G>A single nucleotide variant not provided [RCV000831961] Chr11:6608300 [GRCh38]
Chr11:6629530 [GRCh37]
Chr11:11p15.4		 benign
NM_004517.4(ILK):c.351+39G>A single nucleotide variant not provided [RCV000832927] Chr11:6608528 [GRCh38]
Chr11:6629758 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.164_181del (p.Met55_Ile60del) deletion Primary familial hypertrophic cardiomyopathy [RCV000820041] Chr11:6608115..6608132 [GRCh38]
Chr11:6629345..6629362 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1079-10A>C single nucleotide variant ILK-related disorder [RCV003918307]|Primary familial hypertrophic cardiomyopathy [RCV001451940]|not provided [RCV000841749]|not specified [RCV001727804] Chr11:6610138 [GRCh38]
Chr11:6631369 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_004517.4(ILK):c.466G>A (p.Gly156Ser) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000824494]|not provided [RCV001528263]|not specified [RCV004029180] Chr11:6608901 [GRCh38]
Chr11:6630132 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_004517.4(ILK):c.236A>T (p.His79Leu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000812749] Chr11:6608192 [GRCh38]
Chr11:6629422 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.618+23T>C single nucleotide variant not provided [RCV000830425] Chr11:6609179 [GRCh38]
Chr11:6630410 [GRCh37]
Chr11:11p15.4		 benign
NM_004517.4(ILK):c.-129G>T single nucleotide variant not provided [RCV000830691] Chr11:6603786 [GRCh38]
Chr11:6625016 [GRCh37]
Chr11:11p15.4		 benign
NM_004517.4(ILK):c.619-12C>A single nucleotide variant not provided [RCV000841422] Chr11:6609287 [GRCh38]
Chr11:6630518 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.-92-39A>G single nucleotide variant not provided [RCV000835168] Chr11:6604141 [GRCh38]
Chr11:6625371 [GRCh37]
Chr11:11p15.4		 likely benign
GRCh37/hg19 11p15.4(chr11:5896551-6719852)x3 copy number gain not provided [RCV000849971] Chr11:5896551..6719852 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1256C>T (p.Pro419Leu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001209258]|not provided [RCV002224023] Chr11:6610508 [GRCh38]
Chr11:6631739 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1357T>C (p.Ter453Gln) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001242658] Chr11:6610609 [GRCh38]
Chr11:6631840 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1162C>T (p.Arg388Trp) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001224448]|not specified [RCV004032511] Chr11:6610231 [GRCh38]
Chr11:6631462 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.4(chr11:6607967-6796286)x3 copy number gain not provided [RCV000846249] Chr11:6607967..6796286 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.879G>C (p.Gln293His) single nucleotide variant See cases [RCV001198754] Chr11:6609746 [GRCh38]
Chr11:6630977 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.296A>C (p.His99Pro) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001212152] Chr11:6608434 [GRCh38]
Chr11:6629664 [GRCh37]
Chr11:11p15.4		 uncertain significance
NC_000011.9:g.(?_6625502)_(6662844_?)dup duplication not provided [RCV003107734] Chr11:6625502..6662844 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.610T>G (p.Ser204Ala) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003621695]|not specified [RCV004331673] Chr11:6609148 [GRCh38]
Chr11:6630379 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.399A>G (p.Gly133=) single nucleotide variant not specified [RCV004331677] Chr11:6608741 [GRCh38]
Chr11:6629971 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.906A>G (p.Ala302=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002073358]|not provided [RCV001714553]|not specified [RCV004039971] Chr11:6609773 [GRCh38]
Chr11:6631004 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_004517.4(ILK):c.1263G>T (p.Val421=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000869957]|not specified [RCV004027766] Chr11:6610515 [GRCh38]
Chr11:6631746 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.857-10C>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001444951] Chr11:6609714 [GRCh38]
Chr11:6630945 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.969T>C (p.Arg323=) single nucleotide variant not provided [RCV000923130] Chr11:6609836 [GRCh38]
Chr11:6631067 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.183T>C (p.Asn61=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001443143]|not specified [RCV004029688] Chr11:6608139 [GRCh38]
Chr11:6629369 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.163A>G (p.Met55Val) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001053599] Chr11:6608119 [GRCh38]
Chr11:6629349 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.757G>C (p.Val253Leu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001227385] Chr11:6609540 [GRCh38]
Chr11:6630771 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.451C>T (p.Arg151Trp) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001241344] Chr11:6608886 [GRCh38]
Chr11:6630117 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.7G>C (p.Asp3His) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001059223] Chr11:6604278 [GRCh38]
Chr11:6625508 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.714G>A (p.Glu238=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000934412]|not specified [RCV004029612] Chr11:6609394 [GRCh38]
Chr11:6630625 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.777T>C (p.Ser259=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002857913] Chr11:6609560 [GRCh38]
Chr11:6630791 [GRCh37]
Chr11:11p15.4		 likely benign
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_004517.4(ILK):c.1210-4G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002073259]|not provided [RCV001698920] Chr11:6610458 [GRCh38]
Chr11:6631689 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NC_000011.9:g.(?_5709028)_(6640651_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032559] Chr11:5709028..6640651 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.169G>A (p.Gly57Arg) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001069447] Chr11:6608125 [GRCh38]
Chr11:6629355 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.255+3A>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001069587] Chr11:6608214 [GRCh38]
Chr11:6629444 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1238T>A (p.Ile413Asn) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001035063] Chr11:6610490 [GRCh38]
Chr11:6631721 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.799C>G (p.Leu267Val) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001207142] Chr11:6609582 [GRCh38]
Chr11:6630813 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.193C>T (p.Arg65Cys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001045425] Chr11:6608149 [GRCh38]
Chr11:6629379 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.614G>A (p.Gly205Glu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001071240]|not specified [RCV004629445] Chr11:6609152 [GRCh38]
Chr11:6630383 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_004517.4(ILK):c.1149G>A (p.Trp383Ter) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001041826] Chr11:6610218 [GRCh38]
Chr11:6631449 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1045C>T (p.Arg349Cys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001211196] Chr11:6610002 [GRCh38]
Chr11:6631233 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_004517.4(ILK):c.958C>G (p.Leu320Val) single nucleotide variant ILK-related disorder [RCV003416192]|Primary familial hypertrophic cardiomyopathy [RCV001314416] Chr11:6609825 [GRCh38]
Chr11:6631056 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1321_1322del (p.Met441fs) deletion Primary familial hypertrophic cardiomyopathy [RCV001327566] Chr11:6610573..6610574 [GRCh38]
Chr11:6631804..6631805 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.766G>A (p.Ala256Thr) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001337324] Chr11:6609549 [GRCh38]
Chr11:6630780 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.89+6C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001363143] Chr11:6604366 [GRCh38]
Chr11:6625596 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1122C>T (p.Asp374=) single nucleotide variant ILK-related disorder [RCV003938706]|Primary familial hypertrophic cardiomyopathy [RCV001413110]|not specified [RCV004038102] Chr11:6610191 [GRCh38]
Chr11:6631422 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.968G>A (p.Arg323His) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001345837]|not specified [RCV004036467] Chr11:6609835 [GRCh38]
Chr11:6631066 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.673C>T (p.Arg225Ter) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001321849] Chr11:6609353 [GRCh38]
Chr11:6630584 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.958C>A (p.Leu320Ile) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001365097]|not specified [RCV004036933] Chr11:6609825 [GRCh38]
Chr11:6631056 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.586C>G (p.Leu196Val) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001323102] Chr11:6609124 [GRCh38]
Chr11:6630355 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1307G>A (p.Arg436Gln) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001322222] Chr11:6610559 [GRCh38]
Chr11:6631790 [GRCh37]
Chr11:11p15.4		 uncertain significance
NC_000011.9:g.(?_5709028)_(6640651_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032559]|not provided [RCV001327815] Chr11:5709028..6640651 [GRCh37]
Chr11:11p15.4		 uncertain significance|no classifications from unflagged records
NM_004517.4(ILK):c.978+5_979-38dup duplication Primary familial hypertrophic cardiomyopathy [RCV001299376] Chr11:6609849..6609850 [GRCh38]
Chr11:6631080..6631081 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1301C>A (p.Ala434Glu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001372928] Chr11:6610553 [GRCh38]
Chr11:6631784 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.175C>G (p.Arg59Gly) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001314361] Chr11:6608131 [GRCh38]
Chr11:6629361 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1331C>A (p.Pro444His) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001345628] Chr11:6610583 [GRCh38]
Chr11:6631814 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.35A>G (p.Asn12Ser) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001364575] Chr11:6604306 [GRCh38]
Chr11:6625536 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1322T>G (p.Met441Arg) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001366129] Chr11:6610574 [GRCh38]
Chr11:6631805 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.861C>T (p.Phe287=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001421563]|not specified [RCV004038195] Chr11:6609728 [GRCh38]
Chr11:6630959 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.818C>G (p.Pro273Arg) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001413866] Chr11:6609601 [GRCh38]
Chr11:6630832 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.909G>A (p.Arg303=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001421154]|not specified [RCV004038189] Chr11:6609776 [GRCh38]
Chr11:6631007 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.674G>A (p.Arg225Gln) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001366941] Chr11:6609354 [GRCh38]
Chr11:6630585 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.654C>T (p.Val218=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001412531] Chr11:6609334 [GRCh38]
Chr11:6630565 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.636G>T (p.Trp212Cys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001339475] Chr11:6609316 [GRCh38]
Chr11:6630547 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.256-7G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001337486] Chr11:6608387 [GRCh38]
Chr11:6629617 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.930A>T (p.Thr310=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001478819] Chr11:6609797 [GRCh38]
Chr11:6631028 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.885G>A (p.Val295=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001473738] Chr11:6609752 [GRCh38]
Chr11:6630983 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1227T>C (p.Leu409=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001497668] Chr11:6610479 [GRCh38]
Chr11:6631710 [GRCh37]
Chr11:11p15.4		 likely benign
NC_000011.9:g.(?_6559613)_(6640631_?)del deletion not provided [RCV001386249] Chr11:6559613..6640631 [GRCh37]
Chr11:11p15.4		 pathogenic
NM_004517.4(ILK):c.1188C>A (p.Ser396=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001453524]|not specified [RCV004038522] Chr11:6610257 [GRCh38]
Chr11:6631488 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.801C>T (p.Leu267=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001488136]|not specified [RCV004037287] Chr11:6609584 [GRCh38]
Chr11:6630815 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.721C>T (p.Arg241Trp) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001873743]|not provided [RCV001529662] Chr11:6609401 [GRCh38]
Chr11:6630632 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.522C>T (p.Arg174=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001441708] Chr11:6608957 [GRCh38]
Chr11:6630188 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1266T>C (p.Cys422=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001428677] Chr11:6610518 [GRCh38]
Chr11:6631749 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.738G>C (p.Ser246=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001408185]|not specified [RCV004038035] Chr11:6609521 [GRCh38]
Chr11:6630752 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.171G>A (p.Gly57=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001432115]|not specified [RCV004631703] Chr11:6608127 [GRCh38]
Chr11:6629357 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.117C>T (p.His39=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001499045] Chr11:6608073 [GRCh38]
Chr11:6629303 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.90-234G>A single nucleotide variant not provided [RCV001710828] Chr11:6607812 [GRCh38]
Chr11:6629042 [GRCh37]
Chr11:11p15.4		 benign
NM_004517.4(ILK):c.207C>T (p.Thr69=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001495862] Chr11:6608163 [GRCh38]
Chr11:6629393 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1140G>C (p.Val380=) single nucleotide variant not provided [RCV001618925]|not specified [RCV004039542] Chr11:6610209 [GRCh38]
Chr11:6631440 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_004517.4(ILK):c.448+9= variation Primary familial hypertrophic cardiomyopathy [RCV001513850]|not provided [RCV001529746]|not specified [RCV001727861] Chr11:6608799..6608802 [GRCh38]
Chr11:6630030..6630033 [GRCh37]
Chr11:11p15.4		 benign|likely benign
NM_004517.4(ILK):c.69G>C (p.Thr23=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001486296] Chr11:6604340 [GRCh38]
Chr11:6625570 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.555C>T (p.His185=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001459007]|not specified [RCV004038569] Chr11:6609093 [GRCh38]
Chr11:6630324 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1210-5C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001393971] Chr11:6610457 [GRCh38]
Chr11:6631688 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.551A>C (p.Lys184Thr) single nucleotide variant not provided [RCV001528579]|not specified [RCV004039194] Chr11:6609089 [GRCh38]
Chr11:6630320 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.647A>G (p.Asp216Gly) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003509681]|not provided [RCV001730284] Chr11:6609327 [GRCh38]
Chr11:6630558 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1216T>C (p.Leu406=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003509800]|not specified [RCV004331676] Chr11:6610468 [GRCh38]
Chr11:6631699 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1066G>A (p.Val356Ile) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002074033]|not provided [RCV001769937]|not specified [RCV004631742] Chr11:6610023 [GRCh38]
Chr11:6631254 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1209+52A>C single nucleotide variant not provided [RCV001769687] Chr11:6610330 [GRCh38]
Chr11:6631561 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.-92-95A>G single nucleotide variant not provided [RCV001769852] Chr11:6604085 [GRCh38]
Chr11:6625315 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.-93+150G>C single nucleotide variant not provided [RCV001759354] Chr11:6603972 [GRCh38]
Chr11:6625202 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.352-4C>G single nucleotide variant not provided [RCV001757798] Chr11:6608690 [GRCh38]
Chr11:6629920 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.*61C>T single nucleotide variant not provided [RCV001752883] Chr11:6610672 [GRCh38]
Chr11:6631903 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.481C>T (p.Arg161Cys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001896916]|not specified [RCV004042537] Chr11:6608916 [GRCh38]
Chr11:6630147 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.856+3G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001896267] Chr11:6609642 [GRCh38]
Chr11:6630873 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1046G>T (p.Arg349Leu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001913168] Chr11:6610003 [GRCh38]
Chr11:6631234 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.613G>A (p.Gly205Arg) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001967139]|not specified [RCV004041882] Chr11:6609151 [GRCh38]
Chr11:6630382 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.255+19G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001891397] Chr11:6608230 [GRCh38]
Chr11:6629460 [GRCh37]
Chr11:11p15.4		 likely benign
GRCh37/hg19 11p15.4(chr11:6502523-7248333)x3 copy number gain not provided [RCV001836564] Chr11:6502523..7248333 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1052A>G (p.Tyr351Cys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002021027] Chr11:6610009 [GRCh38]
Chr11:6631240 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1270C>G (p.Leu424Val) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001911001] Chr11:6610522 [GRCh38]
Chr11:6631753 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.590C>T (p.Thr197Met) single nucleotide variant ILK-related cardiomyopathy [RCV003448436]|Primary familial hypertrophic cardiomyopathy [RCV001984975] Chr11:6609128 [GRCh38]
Chr11:6630359 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1018G>A (p.Val340Ile) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002043806] Chr11:6609975 [GRCh38]
Chr11:6631206 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1086G>C (p.Gln362His) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001911736]|not provided [RCV002224110] Chr11:6610155 [GRCh38]
Chr11:6631386 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1214C>T (p.Ala405Val) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002022732] Chr11:6610466 [GRCh38]
Chr11:6631697 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.110C>T (p.Pro37Leu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001945068] Chr11:6608066 [GRCh38]
Chr11:6629296 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.436G>C (p.Glu146Gln) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001926392] Chr11:6608778 [GRCh38]
Chr11:6630008 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1111C>T (p.Arg371Cys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001943925]|not specified [RCV004044141] Chr11:6610180 [GRCh38]
Chr11:6631411 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1210-2A>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001954545] Chr11:6610460 [GRCh38]
Chr11:6631691 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.395A>G (p.Tyr132Cys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002018447] Chr11:6608737 [GRCh38]
Chr11:6629967 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.370G>T (p.Ala124Ser) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001937404] Chr11:6608712 [GRCh38]
Chr11:6629942 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.373C>G (p.Leu125Val) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002035652]|not specified [RCV004045942] Chr11:6608715 [GRCh38]
Chr11:6629945 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.836A>G (p.Asn279Ser) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001864971] Chr11:6609619 [GRCh38]
Chr11:6630850 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.656T>A (p.Val219Glu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001879628] Chr11:6609336 [GRCh38]
Chr11:6630567 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.137G>A (p.Arg46His) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001886529] Chr11:6608093 [GRCh38]
Chr11:6629323 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.352G>A (p.Asp118Asn) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001935701] Chr11:6608694 [GRCh38]
Chr11:6629924 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.856+1G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002048291] Chr11:6609640 [GRCh38]
Chr11:6630871 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1078+5G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002050846] Chr11:6610040 [GRCh38]
Chr11:6631271 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.422A>G (p.Lys141Arg) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001957747]|not specified [RCV004043019] Chr11:6608764 [GRCh38]
Chr11:6629994 [GRCh37]
Chr11:11p15.4		 uncertain significance
NC_000011.9:g.(?_6625492)_(6631852_?)dup duplication Primary familial hypertrophic cardiomyopathy [RCV001918770] Chr11:6625492..6631852 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.128G>A (p.Arg43Gln) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001906275] Chr11:6608084 [GRCh38]
Chr11:6629314 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.862G>A (p.Val288Ile) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001952021]|not specified [RCV004043613] Chr11:6609729 [GRCh38]
Chr11:6630960 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1347G>A (p.Met449Ile) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001979554] Chr11:6610599 [GRCh38]
Chr11:6631830 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1022A>G (p.Lys341Arg) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002047169] Chr11:6609979 [GRCh38]
Chr11:6631210 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.79C>A (p.Leu27Ile) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001996844] Chr11:6604350 [GRCh38]
Chr11:6625580 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.695G>A (p.Ser232Asn) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001864884] Chr11:6609375 [GRCh38]
Chr11:6630606 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.857-10C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV001953962] Chr11:6609714 [GRCh38]
Chr11:6630945 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.90-17T>C single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002127274] Chr11:6608029 [GRCh38]
Chr11:6629259 [GRCh37]
Chr11:11p15.4		 benign
NM_004517.4(ILK):c.387T>C (p.Cys129=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002167234] Chr11:6608729 [GRCh38]
Chr11:6629959 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.764G>T (p.Gly255Val) single nucleotide variant not provided [RCV002223388] Chr11:6609547 [GRCh38]
Chr11:6630778 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.837T>C (p.Asn279=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002127543] Chr11:6609620 [GRCh38]
Chr11:6630851 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.448+11C>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002109216] Chr11:6608801 [GRCh38]
Chr11:6630032 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.619-11C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002205699] Chr11:6609288 [GRCh38]
Chr11:6630519 [GRCh37]
Chr11:11p15.4		 benign
NM_004517.4(ILK):c.352-8C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002190965] Chr11:6608686 [GRCh38]
Chr11:6629916 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.449-15G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002168785] Chr11:6608869 [GRCh38]
Chr11:6630100 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.619-18C>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002089500] Chr11:6609281 [GRCh38]
Chr11:6630512 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.89+13G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002189032] Chr11:6604373 [GRCh38]
Chr11:6625603 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.856+14T>C single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002097533] Chr11:6609653 [GRCh38]
Chr11:6630884 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1209+13C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002087984] Chr11:6610291 [GRCh38]
Chr11:6631522 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1210-13C>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002213149] Chr11:6610449 [GRCh38]
Chr11:6631680 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.588G>A (p.Leu196=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002114873] Chr11:6609126 [GRCh38]
Chr11:6630357 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.978+10C>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002130871] Chr11:6609855 [GRCh38]
Chr11:6631086 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.288G>A (p.Val96=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002150966]|not specified [RCV004631972] Chr11:6608426 [GRCh38]
Chr11:6629656 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.924A>G (p.Leu308=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002088780] Chr11:6609791 [GRCh38]
Chr11:6631022 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.449-11T>C single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002114810] Chr11:6608873 [GRCh38]
Chr11:6630104 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.231T>C (p.His77=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002116825]|not provided [RCV004706334]|not specified [RCV004045822] Chr11:6608187 [GRCh38]
Chr11:6629417 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.979-20A>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002159400] Chr11:6609916 [GRCh38]
Chr11:6631147 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1210-20T>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002177088] Chr11:6610442 [GRCh38]
Chr11:6631673 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.533-14G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002217468] Chr11:6609057 [GRCh38]
Chr11:6630288 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.111C>T (p.Pro37=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002219542]|not specified [RCV004045672] Chr11:6608067 [GRCh38]
Chr11:6629297 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1079-15G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002178214] Chr11:6610133 [GRCh38]
Chr11:6631364 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.351+18A>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002137902] Chr11:6608507 [GRCh38]
Chr11:6629737 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1041T>C (p.Pro347=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002199329]|not specified [RCV004045540] Chr11:6609998 [GRCh38]
Chr11:6631229 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.619-9G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002142987] Chr11:6609290 [GRCh38]
Chr11:6630521 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1338T>C (p.Leu446=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002162157]|not specified [RCV004044984] Chr11:6610590 [GRCh38]
Chr11:6631821 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1014T>C (p.Ala338=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002141729]|not specified [RCV004046328] Chr11:6609971 [GRCh38]
Chr11:6631202 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.410T>C (p.Val137Ala) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003117177]|not specified [RCV004245958] Chr11:6608752 [GRCh38]
Chr11:6629982 [GRCh37]
Chr11:11p15.4		 uncertain significance
NC_000011.9:g.(?_6411829)_(6662844_?)dup duplication not provided [RCV003111159] Chr11:6411829..6662844 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
NM_004517.4(ILK):c.98A>C (p.His33Pro) single nucleotide variant not specified [RCV004057687] Chr11:6608054 [GRCh38]
Chr11:6629284 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.815T>G (p.Met272Arg) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003099851]|not specified [RCV004055505] Chr11:6609598 [GRCh38]
Chr11:6630829 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.111C>A (p.Pro37=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003102823]|not specified [RCV004063027] Chr11:6608067 [GRCh38]
Chr11:6629297 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.816G>A (p.Met272Ile) single nucleotide variant not specified [RCV004055516] Chr11:6609599 [GRCh38]
Chr11:6630830 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1313A>C (p.Lys438Thr) single nucleotide variant not specified [RCV004058325] Chr11:6610565 [GRCh38]
Chr11:6631796 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.493A>G (p.Lys165Glu) single nucleotide variant not specified [RCV004050259] Chr11:6608928 [GRCh38]
Chr11:6630159 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.790C>T (p.His264Tyr) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003099782]|not specified [RCV004054776] Chr11:6609573 [GRCh38]
Chr11:6630804 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.679T>A (p.Trp227Arg) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003509728]|not specified [RCV004052819] Chr11:6609359 [GRCh38]
Chr11:6630590 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_004517.4(ILK):c.885G>C (p.Val295=) single nucleotide variant not specified [RCV004054823] Chr11:6609752 [GRCh38]
Chr11:6630983 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.72G>A (p.Glu24=) single nucleotide variant not specified [RCV004055870] Chr11:6604343 [GRCh38]
Chr11:6625573 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.478A>G (p.Asn160Asp) single nucleotide variant not specified [RCV004052135] Chr11:6608913 [GRCh38]
Chr11:6630144 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.876C>T (p.Ser292=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003103531]|not specified [RCV004056693] Chr11:6609743 [GRCh38]
Chr11:6630974 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.895T>C (p.Leu299=) single nucleotide variant not specified [RCV004054893] Chr11:6609762 [GRCh38]
Chr11:6630993 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.475C>G (p.Leu159Val) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003621632]|not specified [RCV004052078] Chr11:6608910 [GRCh38]
Chr11:6630141 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.140C>G (p.Ser47Cys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003095112]|not specified [RCV004057172] Chr11:6608096 [GRCh38]
Chr11:6629326 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1001G>A (p.Arg334Gln) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003621644]|not specified [RCV004058269] Chr11:6609958 [GRCh38]
Chr11:6631189 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.655G>A (p.Val219Met) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003098289]|not specified [RCV004054401] Chr11:6609335 [GRCh38]
Chr11:6630566 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.63C>T (p.Asp21=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003098233]|not specified [RCV004053940] Chr11:6604334 [GRCh38]
Chr11:6625564 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.591G>A (p.Thr197=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003509724]|not specified [RCV004054269] Chr11:6609129 [GRCh38]
Chr11:6630360 [GRCh37]
Chr11:11p15.4		 likely benign|uncertain significance
NM_004517.4(ILK):c.149T>C (p.Val50Ala) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003621648]|not specified [RCV004058538] Chr11:6608105 [GRCh38]
Chr11:6629335 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1089G>A (p.Lys363=) single nucleotide variant not specified [RCV004061941] Chr11:6610158 [GRCh38]
Chr11:6631389 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1163G>A (p.Arg388Gln) single nucleotide variant not specified [RCV004051262] Chr11:6610232 [GRCh38]
Chr11:6631463 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.136C>T (p.Arg46Cys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003095043]|not specified [RCV004058878] Chr11:6608092 [GRCh38]
Chr11:6629322 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.394T>G (p.Tyr132Asp) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003621627]|not specified [RCV004050464] Chr11:6608736 [GRCh38]
Chr11:6629966 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1104A>C (p.Thr368=) single nucleotide variant not specified [RCV004062754] Chr11:6610173 [GRCh38]
Chr11:6631404 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.213G>A (p.Leu71=) single nucleotide variant not specified [RCV004060993] Chr11:6608169 [GRCh38]
Chr11:6629399 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.207C>G (p.Thr69=) single nucleotide variant not specified [RCV004060255] Chr11:6608163 [GRCh38]
Chr11:6629393 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.846T>C (p.His282=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003509741]|not specified [RCV004056171] Chr11:6609629 [GRCh38]
Chr11:6630860 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.427C>A (p.Pro143Thr) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003094620]|not specified [RCV004049898] Chr11:6608769 [GRCh38]
Chr11:6629999 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1089G>T (p.Lys363Asn) single nucleotide variant not specified [RCV004061946] Chr11:6610158 [GRCh38]
Chr11:6631389 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.738G>T (p.Ser246=) single nucleotide variant not specified [RCV004055971] Chr11:6609521 [GRCh38]
Chr11:6630752 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.818C>A (p.Pro273Gln) single nucleotide variant not specified [RCV004055526] Chr11:6609601 [GRCh38]
Chr11:6630832 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.901A>T (p.Met301Leu) single nucleotide variant not specified [RCV004054933] Chr11:6609768 [GRCh38]
Chr11:6630999 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.230A>G (p.His77Arg) single nucleotide variant not specified [RCV004062644] Chr11:6608186 [GRCh38]
Chr11:6629416 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.52C>T (p.Leu18=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003621634]|not specified [RCV004052367] Chr11:6604323 [GRCh38]
Chr11:6625553 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.597C>A (p.Leu199=) single nucleotide variant not specified [RCV004052512] Chr11:6609135 [GRCh38]
Chr11:6630366 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.246T>A (p.Ile82=) single nucleotide variant not specified [RCV004063928] Chr11:6608202 [GRCh38]
Chr11:6629432 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.364A>T (p.Asn122Tyr) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003102416]|not specified [RCV004049569] Chr11:6608706 [GRCh38]
Chr11:6629936 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.205A>T (p.Thr69Ser) single nucleotide variant not specified [RCV004059672] Chr11:6608161 [GRCh38]
Chr11:6629391 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.94G>A (p.Asp32Asn) single nucleotide variant not specified [RCV004056865] Chr11:6608050 [GRCh38]
Chr11:6629280 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.482G>A (p.Arg161His) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003775973]|not specified [RCV004052203] Chr11:6608917 [GRCh38]
Chr11:6630148 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.639G>A (p.Gln213=) single nucleotide variant not specified [RCV004053934] Chr11:6609319 [GRCh38]
Chr11:6630550 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1032C>T (p.Phe344=) single nucleotide variant not specified [RCV004057090] Chr11:6609989 [GRCh38]
Chr11:6631220 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.432G>A (p.Leu144=) single nucleotide variant not specified [RCV004050005] Chr11:6608774 [GRCh38]
Chr11:6630004 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.515C>A (p.Thr172Asn) single nucleotide variant not specified [RCV004051103] Chr11:6608950 [GRCh38]
Chr11:6630181 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.261G>A (p.Leu87=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002993802]|not specified [RCV004632131] Chr11:6608399 [GRCh38]
Chr11:6629629 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.856+16G>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002775876] Chr11:6609655 [GRCh38]
Chr11:6630886 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.641G>A (p.Gly214Asp) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002947587] Chr11:6609321 [GRCh38]
Chr11:6630552 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1210-11T>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002727193] Chr11:6610451 [GRCh38]
Chr11:6631682 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.15C>T (p.Phe5=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002614520] Chr11:6604286 [GRCh38]
Chr11:6625516 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.556T>C (p.Ser186Pro) single nucleotide variant not specified [RCV004103732] Chr11:6609094 [GRCh38]
Chr11:6630325 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1210-17T>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002948638] Chr11:6610445 [GRCh38]
Chr11:6631676 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1075G>A (p.Glu359Lys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002639377] Chr11:6610032 [GRCh38]
Chr11:6631263 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1355A>C (p.Lys452Thr) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002885475] Chr11:6610607 [GRCh38]
Chr11:6631838 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.532+13T>C single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003035838] Chr11:6608980 [GRCh38]
Chr11:6630211 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1263G>A (p.Val421=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002780485] Chr11:6610515 [GRCh38]
Chr11:6631746 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.865G>A (p.Val289Met) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003077342] Chr11:6609732 [GRCh38]
Chr11:6630963 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.707A>T (p.Asn236Ile) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002705395] Chr11:6609387 [GRCh38]
Chr11:6630618 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.264G>C (p.Gln88His) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002740033] Chr11:6608402 [GRCh38]
Chr11:6629632 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1210-18T>C single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003035587] Chr11:6610444 [GRCh38]
Chr11:6631675 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.266A>C (p.Tyr89Ser) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002761695] Chr11:6608404 [GRCh38]
Chr11:6629634 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1074C>T (p.Pro358=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002639969] Chr11:6610031 [GRCh38]
Chr11:6631262 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.792T>A (p.His264Gln) single nucleotide variant not specified [RCV004175585] Chr11:6609575 [GRCh38]
Chr11:6630806 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.518C>T (p.Thr173Ile) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003081927] Chr11:6608953 [GRCh38]
Chr11:6630184 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.945C>T (p.Ile315=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002890705] Chr11:6609812 [GRCh38]
Chr11:6631043 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.700G>A (p.Asp234Asn) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003057192] Chr11:6609380 [GRCh38]
Chr11:6630611 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1275G>A (p.Met425Ile) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002917537] Chr11:6610527 [GRCh38]
Chr11:6631758 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.520C>T (p.Arg174Cys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002667935]|not provided [RCV003491138] Chr11:6608955 [GRCh38]
Chr11:6630186 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.354C>T (p.Asp118=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003065313] Chr11:6608696 [GRCh38]
Chr11:6629926 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.532C>T (p.Arg178Ter) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002720181] Chr11:6608967 [GRCh38]
Chr11:6630198 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.972T>C (p.Ser324=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002602848] Chr11:6609839 [GRCh38]
Chr11:6631070 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.618+5C>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003092105] Chr11:6609161 [GRCh38]
Chr11:6630392 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.619C>G (p.Leu207Val) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003029550] Chr11:6609299 [GRCh38]
Chr11:6630530 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.581A>C (p.Asn194Thr) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003044704] Chr11:6609119 [GRCh38]
Chr11:6630350 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.238C>T (p.Arg80Cys) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003061146]|not specified [RCV004070448] Chr11:6608194 [GRCh38]
Chr11:6629424 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.449-3T>C single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002857452] Chr11:6608881 [GRCh38]
Chr11:6630112 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.618+16_618+18del microsatellite Primary familial hypertrophic cardiomyopathy [RCV002938300] Chr11:6609169..6609171 [GRCh38]
Chr11:6630400..6630402 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.449-15_449-12del deletion Primary familial hypertrophic cardiomyopathy [RCV002647592] Chr11:6608867..6608870 [GRCh38]
Chr11:6630098..6630101 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1210-11T>C single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002577633] Chr11:6610451 [GRCh38]
Chr11:6631682 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.729-15C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002651844] Chr11:6609497 [GRCh38]
Chr11:6630728 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1105_1108del (p.Asn369fs) deletion ILK-related disorder [RCV003410017]|Primary familial hypertrophic cardiomyopathy [RCV002988579] Chr11:6610171..6610174 [GRCh38]
Chr11:6631402..6631405 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.274G>A (p.Asp92Asn) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002856599] Chr11:6608412 [GRCh38]
Chr11:6629642 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.794C>T (p.Pro265Leu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003067610] Chr11:6609577 [GRCh38]
Chr11:6630808 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.649A>T (p.Ile217Phe) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003070503] Chr11:6609329 [GRCh38]
Chr11:6630560 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.961A>G (p.Asn321Asp) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002607192] Chr11:6609828 [GRCh38]
Chr11:6631059 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.377T>C (p.Val126Ala) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003067648] Chr11:6608719 [GRCh38]
Chr11:6629949 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.729-20C>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002588675] Chr11:6609492 [GRCh38]
Chr11:6630723 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1229G>A (p.Arg410Gln) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV002612079] Chr11:6610481 [GRCh38]
Chr11:6631712 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.440T>C (p.Leu147Pro) single nucleotide variant not specified [RCV004264563] Chr11:6608782 [GRCh38]
Chr11:6630012 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.713A>T (p.Glu238Val) single nucleotide variant not specified [RCV004245083] Chr11:6609393 [GRCh38]
Chr11:6630624 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.758T>C (p.Val253Ala) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003621686]|not specified [RCV004245084] Chr11:6609541 [GRCh38]
Chr11:6630772 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.21G>A (p.Gln7=) single nucleotide variant not specified [RCV004245085] Chr11:6604292 [GRCh38]
Chr11:6625522 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.127C>G (p.Arg43Gly) single nucleotide variant not specified [RCV004245086] Chr11:6608083 [GRCh38]
Chr11:6629313 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.644A>G (p.Asn215Ser) single nucleotide variant not specified [RCV004246236] Chr11:6609324 [GRCh38]
Chr11:6630555 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1093C>G (p.Pro365Ala) single nucleotide variant not specified [RCV004245082] Chr11:6610162 [GRCh38]
Chr11:6631393 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.738G>A (p.Ser246=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003622312] Chr11:6609521 [GRCh38]
Chr11:6630752 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.560G>T (p.Gly187Val) single nucleotide variant not specified [RCV004346655] Chr11:6609098 [GRCh38]
Chr11:6630329 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.686C>T (p.Thr229Ile) single nucleotide variant not specified [RCV004364354] Chr11:6609366 [GRCh38]
Chr11:6630597 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.513G>T (p.Gly171=) single nucleotide variant not specified [RCV004334235] Chr11:6608948 [GRCh38]
Chr11:6630179 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.67A>T (p.Thr23Ser) single nucleotide variant not specified [RCV004354286] Chr11:6604338 [GRCh38]
Chr11:6625568 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1209+15G>C single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003622983] Chr11:6610293 [GRCh38]
Chr11:6631524 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.89+8G>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003623535] Chr11:6604368 [GRCh38]
Chr11:6625598 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1305G>A (p.Lys435=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003623303] Chr11:6610557 [GRCh38]
Chr11:6631788 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.995C>T (p.Thr332Ile) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003623625] Chr11:6609952 [GRCh38]
Chr11:6631183 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.838G>A (p.Val280Ile) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003875131] Chr11:6609621 [GRCh38]
Chr11:6630852 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.690G>A (p.Arg230=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003623680] Chr11:6609370 [GRCh38]
Chr11:6630601 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.533-16C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003623761] Chr11:6609055 [GRCh38]
Chr11:6630286 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1228C>T (p.Arg410Trp) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003622348] Chr11:6610480 [GRCh38]
Chr11:6631711 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.448+4dup duplication Primary familial hypertrophic cardiomyopathy [RCV003622614] Chr11:6608792..6608793 [GRCh38]
Chr11:6630022..6630023 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.252_255+9dup duplication Primary familial hypertrophic cardiomyopathy [RCV003622624] Chr11:6608202..6608203 [GRCh38]
Chr11:6629432..6629433 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.83A>G (p.Asn28Ser) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003622841] Chr11:6604354 [GRCh38]
Chr11:6625584 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.958C>T (p.Leu320Phe) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003622537] Chr11:6609825 [GRCh38]
Chr11:6631056 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.619-13A>C single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003622508] Chr11:6609286 [GRCh38]
Chr11:6630517 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.944T>C (p.Ile315Thr) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003622958] Chr11:6609811 [GRCh38]
Chr11:6631042 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1031T>A (p.Phe344Tyr) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003622955] Chr11:6609988 [GRCh38]
Chr11:6631219 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.729-14C>T single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003623205] Chr11:6609498 [GRCh38]
Chr11:6630729 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.567C>T (p.Asp189=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003622349] Chr11:6609105 [GRCh38]
Chr11:6630336 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1209+18T>C single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003622357] Chr11:6610296 [GRCh38]
Chr11:6631527 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1136C>T (p.Ala379Val) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003622385] Chr11:6610205 [GRCh38]
Chr11:6631436 [GRCh37]
Chr11:11p15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 copy number gain Russell-Silver syndrome [RCV003444025] Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_004517.4(ILK):c.151G>C (p.Glu51Gln) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003511170] Chr11:6608107 [GRCh38]
Chr11:6629337 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.857-12G>C single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003509441] Chr11:6609712 [GRCh38]
Chr11:6630943 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.255+17T>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003510998] Chr11:6608228 [GRCh38]
Chr11:6629458 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.244A>G (p.Ile82Val) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003510422] Chr11:6608200 [GRCh38]
Chr11:6629430 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.542C>T (p.Thr181Ile) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003511154] Chr11:6609080 [GRCh38]
Chr11:6630311 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.529C>T (p.Pro177Ser) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003509297] Chr11:6608964 [GRCh38]
Chr11:6630195 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1137A>T (p.Ala379=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003509316] Chr11:6610206 [GRCh38]
Chr11:6631437 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1356G>A (p.Lys452=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003509183] Chr11:6610608 [GRCh38]
Chr11:6631839 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.618+19del deletion Primary familial hypertrophic cardiomyopathy [RCV003511274] Chr11:6609175 [GRCh38]
Chr11:6630406 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.979-14T>C single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003509407] Chr11:6609922 [GRCh38]
Chr11:6631153 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.729-3T>C single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003511022] Chr11:6609509 [GRCh38]
Chr11:6630740 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1169T>C (p.Val390Ala) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003824554] Chr11:6610238 [GRCh38]
Chr11:6631469 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.527G>A (p.Arg176Gln) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003511123] Chr11:6608962 [GRCh38]
Chr11:6630193 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.489A>G (p.Pro163=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003840380] Chr11:6608924 [GRCh38]
Chr11:6630155 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1123A>C (p.Met375Leu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003814498] Chr11:6610192 [GRCh38]
Chr11:6631423 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.819G>C (p.Pro273=) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003622207] Chr11:6609602 [GRCh38]
Chr11:6630833 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.978+3G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003866221] Chr11:6609848 [GRCh38]
Chr11:6631079 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.857-19_857-17del deletion Primary familial hypertrophic cardiomyopathy [RCV003622275] Chr11:6609705..6609707 [GRCh38]
Chr11:6630936..6630938 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.978+13G>A single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV003621912] Chr11:6609858 [GRCh38]
Chr11:6631089 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1153C>A (p.Leu385Met) single nucleotide variant not specified [RCV004519028] Chr11:6610222 [GRCh38]
Chr11:6631453 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.173C>T (p.Ala58Val) single nucleotide variant not specified [RCV004519031] Chr11:6608129 [GRCh38]
Chr11:6629359 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.771C>T (p.Cys257=) single nucleotide variant not specified [RCV004519035] Chr11:6609554 [GRCh38]
Chr11:6630785 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.828C>T (p.Ser276=) single nucleotide variant not specified [RCV004519037] Chr11:6609611 [GRCh38]
Chr11:6630842 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.472A>T (p.Asn158Tyr) single nucleotide variant not specified [RCV004519034] Chr11:6608907 [GRCh38]
Chr11:6630138 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1068A>T (p.Val356=) single nucleotide variant not specified [RCV004519027] Chr11:6610025 [GRCh38]
Chr11:6631256 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.186A>C (p.Val62=) single nucleotide variant not specified [RCV004519032] Chr11:6608142 [GRCh38]
Chr11:6629372 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.953A>T (p.His318Leu) single nucleotide variant not specified [RCV004519038] Chr11:6609820 [GRCh38]
Chr11:6631051 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1037G>A (p.Cys346Tyr) single nucleotide variant not specified [RCV004519026] Chr11:6609994 [GRCh38]
Chr11:6631225 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.648C>T (p.Asp216=) single nucleotide variant ILK-related disorder [RCV003979446] Chr11:6609328 [GRCh38]
Chr11:6630559 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1204A>G (p.Met402Val) single nucleotide variant not specified [RCV004519029] Chr11:6610273 [GRCh38]
Chr11:6631504 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.1245A>G (p.Pro415=) single nucleotide variant not specified [RCV004519030] Chr11:6610497 [GRCh38]
Chr11:6631728 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.199G>A (p.Asp67Asn) single nucleotide variant not specified [RCV004519033] Chr11:6608155 [GRCh38]
Chr11:6629385 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.818C>T (p.Pro273Leu) single nucleotide variant not specified [RCV004519036] Chr11:6609601 [GRCh38]
Chr11:6630832 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.46G>T (p.Val16Phe) single nucleotide variant not specified [RCV004405365] Chr11:6604317 [GRCh38]
Chr11:6625547 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.650T>C (p.Ile217Thr) single nucleotide variant not specified [RCV004405366] Chr11:6609330 [GRCh38]
Chr11:6630561 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.943A>G (p.Ile315Val) single nucleotide variant not specified [RCV004628113] Chr11:6609810 [GRCh38]
Chr11:6631041 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.869A>C (p.Asp290Ala) single nucleotide variant not specified [RCV004628115] Chr11:6609736 [GRCh38]
Chr11:6630967 [GRCh37]
Chr11:11p15.4		 uncertain significance
NC_000011.9:g.(?_6625502)_(6631842_?)dup duplication Primary familial hypertrophic cardiomyopathy [RCV004580185] Chr11:6625502..6631842 [GRCh37]
Chr11:11p15.4		 uncertain significance
NM_004517.4(ILK):c.441T>G (p.Leu147=) single nucleotide variant not specified [RCV004628118] Chr11:6608783 [GRCh38]
Chr11:6630013 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.1182C>T (p.Asp394=) single nucleotide variant not specified [RCV004628114] Chr11:6610251 [GRCh38]
Chr11:6631482 [GRCh37]
Chr11:11p15.4		 likely benign
NM_004517.4(ILK):c.439C>T (p.Leu147Phe) single nucleotide variant not specified [RCV004628116] Chr11:6608781 [GRCh38]
Chr11:6630011 [GRCh37]
Chr11:11p15.4		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR625hsa-miR-625-5pMirtarbaseexternal_infoImmunoblot//Immunohistochemistry//Luciferase reporFunctional MTI22677169
MIR625hsa-miR-625-5pOncomiRDBexternal_infoNANA22677169
MIR542hsa-miR-542-3pMirtarbaseexternal_infoImmunoblot//Immunocytochemistry//Luciferase reportFunctional MTI21860426
MIR542hsa-miR-542-3pOncomiRDBexternal_infoNANA21860426
MIR145hsa-miR-145-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI23104321
MIR145hsa-miR-145-5pOncomiRDBexternal_infoNANA23104321

Predicted Target Of
Summary Value
Count of predictions:5866
Count of miRNA genes:1016
Interacting mature miRNAs:1300
Transcripts:ENST00000299421, ENST00000396751, ENST00000420936, ENST00000524735, ENST00000526114, ENST00000526318, ENST00000526711, ENST00000527121, ENST00000527327, ENST00000527394, ENST00000528784, ENST00000528995, ENST00000530016, ENST00000532063, ENST00000534565, ENST00000534706, ENST00000537806
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2289313BW388_HBody weight QTL 388 (human)1.570.00356Body fat amountabdominal11443467130434671Human
1559107SCL32_HSerum cholesterol level QTL 32 (human)3.27Lipid levelLDL cholesterol11289243028892430Human
1559113SCL31_HSerum cholesterol level QTL 31 (human)3.72Lipid levelLDL cholesterol11289243028892430Human

Markers in Region
A002C40  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,631,813 - 6,632,034UniSTSGRCh37
Build 36116,588,389 - 6,588,610RGDNCBI36
Celera116,750,879 - 6,751,100RGD
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map11p15.3UniSTS
HuRef116,290,745 - 6,290,966UniSTS
GeneMap99-GB4 RH Map1136.62UniSTS
WI-22555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,628,549 - 6,628,823UniSTSGRCh37
Build 36116,585,125 - 6,585,399RGDNCBI36
Celera116,747,616 - 6,747,890RGD
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map11p15.3UniSTS
HuRef116,287,482 - 6,287,756UniSTS
GeneMap99-GB4 RH Map1138.54UniSTS
Whitehead-RH Map1142.2UniSTS
NCBI RH Map1124.0UniSTS
WI-12713  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,623,173 - 6,623,297UniSTSGRCh37
Build 36116,579,749 - 6,579,873RGDNCBI36
Celera116,742,240 - 6,742,364RGD
Cytogenetic Map11p15.4UniSTS
HuRef116,282,110 - 6,282,234UniSTS
GeneMap99-GB4 RH Map1136.32UniSTS
Whitehead-RH Map1143.1UniSTS
NCBI RH Map1124.0UniSTS
RH12375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,629,569 - 6,629,822UniSTSGRCh37
Build 36116,586,145 - 6,586,398RGDNCBI36
Celera116,748,636 - 6,748,889RGD
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map11p15.3UniSTS
HuRef116,288,502 - 6,288,755UniSTS
GeneMap99-GB4 RH Map1136.42UniSTS
NCBI RH Map1124.0UniSTS
ILK_2854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,631,644 - 6,632,148UniSTSGRCh37
Build 36116,588,220 - 6,588,724RGDNCBI36
Celera116,750,710 - 6,751,214RGD
HuRef116,290,576 - 6,291,080UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001014794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001014795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF244139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ404847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB113885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR407673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC379936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC380243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY257434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U40282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000299421   ⟹   ENSP00000299421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,603,774 - 6,610,870 (+)Ensembl
Ensembl Acc Id: ENST00000396751   ⟹   ENSP00000379975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,603,816 - 6,610,870 (+)Ensembl
Ensembl Acc Id: ENST00000420936   ⟹   ENSP00000403487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,603,758 - 6,610,833 (+)Ensembl
Ensembl Acc Id: ENST00000524735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,607,671 - 6,608,418 (+)Ensembl
Ensembl Acc Id: ENST00000526114   ⟹   ENSP00000432617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,603,773 - 6,609,156 (+)Ensembl
Ensembl Acc Id: ENST00000526318   ⟹   ENSP00000480597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,604,296 - 6,610,871 (+)Ensembl
Ensembl Acc Id: ENST00000526711   ⟹   ENSP00000479932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,603,731 - 6,610,874 (+)Ensembl
Ensembl Acc Id: ENST00000527121   ⟹   ENSP00000436062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,603,782 - 6,609,393 (+)Ensembl
Ensembl Acc Id: ENST00000528784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,608,266 - 6,610,031 (+)Ensembl
Ensembl Acc Id: ENST00000528995   ⟹   ENSP00000435323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,603,787 - 6,610,866 (+)Ensembl
Ensembl Acc Id: ENST00000530016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,603,774 - 6,610,611 (+)Ensembl
Ensembl Acc Id: ENST00000532063   ⟹   ENSP00000434492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,603,708 - 6,610,874 (+)Ensembl
Ensembl Acc Id: ENST00000534565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,603,796 - 6,604,726 (+)Ensembl
Ensembl Acc Id: ENST00000534706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,608,746 - 6,609,815 (+)Ensembl
Ensembl Acc Id: ENST00000537806   ⟹   ENSP00000439606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,603,744 - 6,610,835 (+)Ensembl
Ensembl Acc Id: ENST00000627400   ⟹   ENSP00000487498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,604,272 - 6,604,874 (+)Ensembl
RefSeq Acc Id: NM_001014794   ⟹   NP_001014794
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,603,774 - 6,610,870 (+)NCBI
GRCh37116,624,938 - 6,632,105 (+)NCBI
Build 36116,581,540 - 6,588,677 (+)NCBI Archive
HuRef116,283,875 - 6,291,037 (+)NCBI
CHM1_1116,623,840 - 6,631,006 (+)NCBI
T2T-CHM13v2.0116,662,246 - 6,669,338 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001014795   ⟹   NP_001014795
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,603,774 - 6,610,870 (+)NCBI
GRCh37116,624,938 - 6,632,105 (+)NCBI
Build 36116,581,783 - 6,588,677 (+)NCBI Archive
HuRef116,283,875 - 6,291,037 (+)NCBI
CHM1_1116,623,942 - 6,631,006 (+)NCBI
T2T-CHM13v2.0116,662,246 - 6,669,338 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278441   ⟹   NP_001265370
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,603,774 - 6,610,870 (+)NCBI
GRCh37116,624,938 - 6,632,105 (+)NCBI
HuRef116,283,875 - 6,291,037 (+)NCBI
CHM1_1116,623,840 - 6,631,006 (+)NCBI
T2T-CHM13v2.0116,662,246 - 6,669,338 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278442   ⟹   NP_001265371
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,603,774 - 6,610,870 (+)NCBI
GRCh37116,624,938 - 6,632,105 (+)NCBI
HuRef116,283,875 - 6,291,037 (+)NCBI
CHM1_1116,623,840 - 6,631,006 (+)NCBI
T2T-CHM13v2.0116,662,246 - 6,669,338 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004517   ⟹   NP_004508
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,603,774 - 6,610,870 (+)NCBI
Build 36116,581,540 - 6,588,677 (+)NCBI Archive
HuRef116,283,875 - 6,291,037 (+)NCBI
CHM1_1116,623,840 - 6,631,006 (+)NCBI
T2T-CHM13v2.0116,662,246 - 6,669,338 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005252904   ⟹   XP_005252961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,603,774 - 6,610,870 (+)NCBI
GRCh37116,624,938 - 6,632,105 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011520065   ⟹   XP_011518367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,603,774 - 6,610,870 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448498   ⟹   XP_024304266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,604,180 - 6,610,870 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448499   ⟹   XP_024304267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,604,180 - 6,610,870 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047426885   ⟹   XP_047282841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,603,774 - 6,610,870 (+)NCBI
RefSeq Acc Id: XM_054368671   ⟹   XP_054224646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,662,652 - 6,669,338 (+)NCBI
RefSeq Acc Id: XM_054368672   ⟹   XP_054224647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0116,662,652 - 6,669,338 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001014794 (Get FASTA)   NCBI Sequence Viewer  
  NP_001014795 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265370 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265371 (Get FASTA)   NCBI Sequence Viewer  
  NP_004508 (Get FASTA)   NCBI Sequence Viewer  
  XP_005252961 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518367 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304266 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304267 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282841 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224646 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224647 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC16892 (Get FASTA)   NCBI Sequence Viewer  
  AAF74449 (Get FASTA)   NCBI Sequence Viewer  
  AAH01554 (Get FASTA)   NCBI Sequence Viewer  
  ACJ13679 (Get FASTA)   NCBI Sequence Viewer  
  BAD92653 (Get FASTA)   NCBI Sequence Viewer  
  BAH11516 (Get FASTA)   NCBI Sequence Viewer  
  BAH12404 (Get FASTA)   NCBI Sequence Viewer  
  CAB99253 (Get FASTA)   NCBI Sequence Viewer  
  CAG28601 (Get FASTA)   NCBI Sequence Viewer  
  CAH18077 (Get FASTA)   NCBI Sequence Viewer  
  EAW68688 (Get FASTA)   NCBI Sequence Viewer  
  EAW68689 (Get FASTA)   NCBI Sequence Viewer  
  EAW68690 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000299421
  ENSP00000299421.4
  ENSP00000379975
  ENSP00000379975.2
  ENSP00000403487
  ENSP00000403487.2
  ENSP00000432617.1
  ENSP00000434492
  ENSP00000434492.2
  ENSP00000435323
  ENSP00000435323.1
  ENSP00000436062.1
  ENSP00000439606.2
  ENSP00000479932.1
  ENSP00000480597.1
  ENSP00000487498.1
GenBank Protein Q13418 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_004508   ⟸   NM_004517
- Peptide Label: isoform 1
- UniProtKB: P57043 (UniProtKB/Swiss-Prot),   D3DQU0 (UniProtKB/Swiss-Prot),   B7Z418 (UniProtKB/Swiss-Prot),   B7Z1I0 (UniProtKB/Swiss-Prot),   Q68DZ3 (UniProtKB/Swiss-Prot),   Q13418 (UniProtKB/Swiss-Prot),   V9HWF0 (UniProtKB/TrEMBL),   A0A0A0MTH3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001014794   ⟸   NM_001014794
- Peptide Label: isoform 1
- UniProtKB: P57043 (UniProtKB/Swiss-Prot),   D3DQU0 (UniProtKB/Swiss-Prot),   B7Z418 (UniProtKB/Swiss-Prot),   B7Z1I0 (UniProtKB/Swiss-Prot),   Q68DZ3 (UniProtKB/Swiss-Prot),   Q13418 (UniProtKB/Swiss-Prot),   V9HWF0 (UniProtKB/TrEMBL),   A0A0A0MTH3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001014795   ⟸   NM_001014795
- Peptide Label: isoform 1
- UniProtKB: P57043 (UniProtKB/Swiss-Prot),   D3DQU0 (UniProtKB/Swiss-Prot),   B7Z418 (UniProtKB/Swiss-Prot),   B7Z1I0 (UniProtKB/Swiss-Prot),   Q68DZ3 (UniProtKB/Swiss-Prot),   Q13418 (UniProtKB/Swiss-Prot),   V9HWF0 (UniProtKB/TrEMBL),   A0A0A0MTH3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265370   ⟸   NM_001278441
- Peptide Label: isoform 2
- UniProtKB: A0A0A0MTH3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265371   ⟸   NM_001278442
- Peptide Label: isoform 3
- UniProtKB: Q13418 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005252961   ⟸   XM_005252904
- Peptide Label: isoform X1
- UniProtKB: P57043 (UniProtKB/Swiss-Prot),   D3DQU0 (UniProtKB/Swiss-Prot),   B7Z418 (UniProtKB/Swiss-Prot),   B7Z1I0 (UniProtKB/Swiss-Prot),   Q68DZ3 (UniProtKB/Swiss-Prot),   Q13418 (UniProtKB/Swiss-Prot),   V9HWF0 (UniProtKB/TrEMBL),   A0A0A0MTH3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011518367   ⟸   XM_011520065
- Peptide Label: isoform X1
- UniProtKB: P57043 (UniProtKB/Swiss-Prot),   D3DQU0 (UniProtKB/Swiss-Prot),   B7Z418 (UniProtKB/Swiss-Prot),   B7Z1I0 (UniProtKB/Swiss-Prot),   Q68DZ3 (UniProtKB/Swiss-Prot),   Q13418 (UniProtKB/Swiss-Prot),   V9HWF0 (UniProtKB/TrEMBL),   A0A0A0MTH3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304267   ⟸   XM_024448499
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MTH3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304266   ⟸   XM_024448498
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MTH3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000434492   ⟸   ENST00000532063
Ensembl Acc Id: ENSP00000299421   ⟸   ENST00000299421
Ensembl Acc Id: ENSP00000487498   ⟸   ENST00000627400
Ensembl Acc Id: ENSP00000439606   ⟸   ENST00000537806
Ensembl Acc Id: ENSP00000432617   ⟸   ENST00000526114
Ensembl Acc Id: ENSP00000480597   ⟸   ENST00000526318
Ensembl Acc Id: ENSP00000479932   ⟸   ENST00000526711
Ensembl Acc Id: ENSP00000436062   ⟸   ENST00000527121
Ensembl Acc Id: ENSP00000403487   ⟸   ENST00000420936
Ensembl Acc Id: ENSP00000379975   ⟸   ENST00000396751
Ensembl Acc Id: ENSP00000435323   ⟸   ENST00000528995
RefSeq Acc Id: XP_047282841   ⟸   XM_047426885
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054224647   ⟸   XM_054368672
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054224646   ⟸   XM_054368671
- Peptide Label: isoform X2
Protein Domains
Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13418-F1-model_v2 AlphaFold Q13418 1-452 view protein structure

Promoters
RGD ID:6789337
Promoter ID:HG_KWN:12221
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001014794,   NM_001014795,   NM_015324,   OTTHUMT00000257264,   UC001MEG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36116,581,326 - 6,582,317 (-)MPROMDB
RGD ID:6851384
Promoter ID:EP73492
Type:initiation region
Name:HS_ILK
Description:Integrin-linked kinase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36116,581,580 - 6,581,640EPD
RGD ID:6789011
Promoter ID:HG_KWN:12222
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC001MEI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36116,586,966 - 6,588,402 (+)MPROMDB
RGD ID:7219525
Promoter ID:EPDNEW_H15508
Type:initiation region
Name:ILK_1
Description:integrin linked kinase
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
GRCh38116,603,774 - 6,603,834EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6040 AgrOrtholog
COSMIC ILK COSMIC
Ensembl Genes ENSG00000166333 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000299421 ENTREZGENE
  ENST00000299421.9 UniProtKB/Swiss-Prot
  ENST00000396751 ENTREZGENE
  ENST00000396751.6 UniProtKB/Swiss-Prot
  ENST00000420936 ENTREZGENE
  ENST00000420936.6 UniProtKB/Swiss-Prot
  ENST00000526114.5 UniProtKB/TrEMBL
  ENST00000526318.2 UniProtKB/TrEMBL
  ENST00000526711.5 UniProtKB/TrEMBL
  ENST00000527121.5 UniProtKB/TrEMBL
  ENST00000528995 ENTREZGENE
  ENST00000528995.5 UniProtKB/Swiss-Prot
  ENST00000532063 ENTREZGENE
  ENST00000532063.5 UniProtKB/Swiss-Prot
  ENST00000537806.5 UniProtKB/TrEMBL
  ENST00000627400.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166333 GTEx
HGNC ID HGNC:6040 ENTREZGENE
Human Proteome Map ILK Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PK_ILK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser_Thr_protein_kinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3611 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3611 ENTREZGENE
OMIM 602366 OMIM
PANTHER ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 54 UniProtKB/TrEMBL
  ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 61 UniProtKB/TrEMBL
  INTEGRIN-LINKED PROTEIN KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE-THREONINE PROTEIN KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29855 PharmGKB
PIRSF Integrin-linked_kinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS ANKYRIN UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WW45_HUMAN UniProtKB/TrEMBL
  A0A087WWY6_HUMAN UniProtKB/TrEMBL
  A0A0A0MTH3 ENTREZGENE, UniProtKB/TrEMBL
  B7Z1I0 ENTREZGENE
  B7Z418 ENTREZGENE
  D3DQU0 ENTREZGENE
  E9PQ52_HUMAN UniProtKB/TrEMBL
  ILK_HUMAN UniProtKB/Swiss-Prot
  P57043 ENTREZGENE
  Q13418 ENTREZGENE
  Q68DZ3 ENTREZGENE
  V9HWF0 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B7Z1I0 UniProtKB/Swiss-Prot
  B7Z418 UniProtKB/Swiss-Prot
  D3DQU0 UniProtKB/Swiss-Prot
  P57043 UniProtKB/Swiss-Prot
  Q68DZ3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 ILK  integrin linked kinase  ILK  integrin-linked kinase  Symbol and/or name change 5135510 APPROVED