ANGPT1 (angiopoietin 1) - Rat Genome Database

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Gene: ANGPT1 (angiopoietin 1) Homo sapiens
Analyze
Symbol: ANGPT1
Name: angiopoietin 1
RGD ID: 733136
HGNC Page HGNC:484
Description: Enables identical protein binding activity; receptor ligand activity; and receptor tyrosine kinase binding activity. Involved in several processes, including Tie signaling pathway; positive regulation of protein modification process; and regulation of vascular permeability. Acts upstream of or within with a positive effect on positive regulation of ERK1 and ERK2 cascade and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in several cellular components, including extracellular space; membrane raft; and microvillus. Implicated in alcohol dependence; brain ischemia; diabetic retinopathy; hereditary angioedema; and hypertension. Biomarker of carcinoma (multiple); hypertension; and ovarian cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AGP1; AGPT; AGPT-1; ANG-1; ANG1; angiopoietin-1; HAE5
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
GRCh388107,249,482 - 107,497,918 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8107,249,482 - 107,498,055 (-)EnsemblGRCh38hg38GRCh38
GRCh378108,261,710 - 108,510,146 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368108,330,886 - 108,579,430 (-)NCBINCBI36Build 36hg18NCBI36
Build 348108,330,885 - 108,579,430NCBI
Celera8104,448,513 - 104,696,524 (-)NCBICelera
Cytogenetic Map8q23.1NCBI
HuRef8103,581,813 - 103,830,178 (-)NCBIHuRef
CHM1_18108,301,960 - 108,550,507 (-)NCBICHM1_1
T2T-CHM13v2.08108,377,097 - 108,625,564 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane  (ISO)
1,1-dichloroethene  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arachidonyl-2'-chloroethylamide  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP)
atrazine  (ISO)
baicalin  (ISO)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (ISO)
bisphenol F  (EXP,ISO)
cadmium dichloride  (EXP)
cannabidiol  (EXP)
capsaicin  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
crocidolite asbestos  (ISO)
cyclophosphamide  (EXP)
cyclosporin A  (EXP)
cylindrospermopsin  (EXP)
daunorubicin  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
ferric oxide  (ISO)
furan  (ISO)
geldanamycin  (EXP)
genistein  (EXP,ISO)
glyphosate  (EXP,ISO)
hydrogen peroxide  (EXP)
iloprost  (EXP)
indometacin  (EXP)
inulin  (ISO)
L-serine  (ISO)
Lasiocarpine  (EXP)
lipopolysaccharide  (EXP)
LY294002  (EXP)
mercury dichloride  (ISO)
metformin  (ISO)
methotrexate  (EXP)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-acetyl-L-cysteine  (EXP)
N-nitrosodiethylamine  (ISO)
naringin  (ISO)
nicotinic acid  (ISO)
nitrates  (ISO)
ochratoxin A  (ISO)
okadaic acid  (EXP)
oxybenzone  (ISO)
ozone  (ISO)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
PD123319  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
poly(vinyl chloride)  (EXP)
progesterone  (EXP)
propanal  (EXP)
quercetin  (ISO)
rofecoxib  (EXP)
rotenone  (ISO)
roxarsone  (EXP)
Rutecarpine  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sildenafil citrate  (ISO)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (ISO)
sodium arsenite  (EXP)
streptozocin  (ISO)
temozolomide  (EXP)
testosterone  (ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thiram  (EXP)
torcetrapib  (EXP)
trichostatin A  (EXP)
tyrphostin AG 1478  (EXP)
valproic acid  (EXP)
valsartan  (ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of transmembrane receptor protein tyrosine kinase activity  (IDA)
angiogenesis  (IBA,IEA)
animal organ regeneration  (ISO)
blood coagulation  (IEA)
cell differentiation  (IEA)
cell surface receptor protein tyrosine kinase signaling pathway  (IEA)
cell-substrate adhesion  (IEA)
glomerulus vasculature development  (IEA,ISS)
hemopoiesis  (IEA)
heparin proteoglycan biosynthetic process  (IDA)
in utero embryonic development  (IEA)
liver regeneration  (ISO)
negative regulation of apoptotic process  (IDA,ISO)
negative regulation of cell adhesion  (IDA)
negative regulation of cytokine production involved in immune response  (IEA)
negative regulation of endothelial cell apoptotic process  (IDA)
negative regulation of neuron apoptotic process  (IEA)
negative regulation of protein import into nucleus  (IEA)
negative regulation of protein phosphorylation  (ISO)
negative regulation of vascular endothelial growth factor signaling pathway  (IMP)
negative regulation of vascular permeability  (IDA,IEA)
neuron apoptotic process  (IEA)
ovarian follicle development  (ISO)
positive chemotaxis  (IDA)
positive regulation of blood vessel endothelial cell migration  (IDA)
positive regulation of blood-brain barrier permeability  (IMP)
positive regulation of cell adhesion  (IEA)
positive regulation of coagulation  (IDA)
positive regulation of endothelial cell migration  (IDA)
positive regulation of ERK1 and ERK2 cascade  (IDA)
positive regulation of gene expression  (IMP)
positive regulation of peptidyl-serine phosphorylation  (ISO)
positive regulation of peptidyl-tyrosine phosphorylation  (IDA,ISO)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IDA,IEA)
positive regulation of protein ubiquitination  (IDA)
positive regulation of receptor internalization  (IDA)
protein localization to cell surface  (IDA)
regulation of canonical NF-kappaB signal transduction  (IEA)
regulation of endothelial cell proliferation  (IDA)
regulation of macrophage migration inhibitory factor signaling pathway  (IEA)
regulation of skeletal muscle satellite cell proliferation  (IDA)
regulation of tumor necrosis factor production  (IEA)
response to estrogen  (ISO)
response to hypoxia  (ISO)
response to vitamin B3  (ISO)
sprouting angiogenesis  (IDA)
Tie signaling pathway  (IBA,IDA,NAS)

Cellular Component

Molecular Function

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. High-grade clear cell renal cell carcinoma has a higher angiogenic activity than low-grade renal cell carcinoma based on histomorphological quantification and qRT-PCR mRNA expression profile. Baldewijns MM, etal., Br J Cancer. 2007 Jun 18;96(12):1888-95. Epub 2007 May 15.
2. Aurora-A over-expression in high-grade PIN lesions and prostate cancer. Buschhorn HM, etal., Prostate. 2005 Sep 1;64(4):341-6.
3. An association study revealed substantial effects of dominance, epistasis and substance dependence co-morbidity on alcohol dependence symptom count. Chen G, etal., Addict Biol. 2017 Nov;22(6):1475-1485. doi: 10.1111/adb.12402. Epub 2016 May 5.
4. Angiopoietin-1 inhibits intrinsic apoptotic signaling and vascular hyperpermeability following hemorrhagic shock. Childs EW, etal., Am J Physiol Heart Circ Physiol. 2008 May;294(5):H2285-95. Epub 2008 Mar 14.
5. A new animal model for pulmonary hypertension based on the overexpression of a single gene, angiopoietin-1. Chu D, etal., Ann Thorac Surg. 2004 Feb;77(2):449-56; discussion 456-7.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. Angiopoietin-2 causes pericyte dropout in the normal retina: evidence for involvement in diabetic retinopathy. Hammes HP, etal., Diabetes. 2004 Apr;53(4):1104-10.
8. Expression of angiopoietin-1, angiopoietin-2, and Tie2 genes in normal ovary with corpus luteum and in ovarian cancer. Hata K, etal., Oncology. 2002;62(4):340-8.
9. Suppression of diabetic retinopathy with angiopoietin-1. Joussen AM, etal., Am J Pathol. 2002 May;160(5):1683-93.
10. Analysis of angiogenic markers in oral squamous cell carcinoma-gene and protein expression. Jung S, etal., Head Face Med. 2015 Jun 5;11:19. doi: 10.1186/s13005-015-0076-7.
11. AAC-11 overexpression induces invasion and protects cervical cancer cells from apoptosis. Kim JW, etal., Lab Invest. 2000 Apr;80(4):587-94.
12. Angiopoietin-1 promotes neurite outgrowth from dorsal root ganglion cells positive for Tie-2 receptor. Kosacka J, etal., Cell Tissue Res. 2005 Apr;320(1):11-9. Epub 2005 Feb 16.
13. Vascular endothelial growth factor and angiopoietin in liver regeneration. Kraizer Y, etal., Biochem Biophys Res Commun 2001 Sep 14;287(1):209-15.
14. Angiopoietin-1 prevents hypertension and target organ damage through its interaction with endothelial Tie2 receptor. Lee JS, etal., Cardiovasc Res. 2008 Jun 1;78(3):572-80. Epub 2008 Feb 19.
15. Changes in angiopoietin expression in glomeruli involved in glomerulosclerosis in rats with daunorubicin-induced nephrosis. Lu YH, etal., Acta Pharmacol Sin. 2006 May;27(5):579-87.
16. Effects of aspirin on intra-platelet vascular endothelial growth factor, angiopoietin-1, and p-selectin levels in hypertensive patients. Nadar S, etal., Am J Hypertens. 2006 Sep;19(9):970-7; discussion 978.
17. Therapeutic benefits by human mesenchymal stem cells (hMSCs) and Ang-1 gene-modified hMSCs after cerebral ischemia. Onda T, etal., J Cereb Blood Flow Metab. 2007 Jul 18;.
18. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
19. Alteration of the vascular endothelial growth factor and angiopoietins-1 and -2 pathways in transitional cell carcinomas of the urinary bladder associated with tumor progression. Quentin T, etal., Anticancer Res. 2004 Sep-Oct;24(5A):2745-56.
20. The role of angiopoietins during angiogenesis in gliomas. Reiss Y, etal., Brain Pathol. 2005 Oct;15(4):311-7.
21. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
22. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
23. Angiogenic factors in normal endometrium and endometrial adenocarcinoma. Saito M, etal., Pathol Int. 2007 Mar;57(3):140-7.
24. Reciprocal regulation of angiopoietin-1 and angiopoietin-2 following myocardial infarction in the rat. Sandhu R, etal., Cardiovasc Res. 2004 Oct 1;64(1):115-24.
25. Protective role of COMP-Ang1 in ischemic rat brain. Shin HY, etal., J Neurosci Res. 2009 Nov 2.
26. Antiangiogenic treatment with Sunitinib ameliorates inflammatory infiltrate, fibrosis, and portal pressure in cirrhotic rats. Tugues S, etal., Hepatology. 2007 Dec;46(6):1919-26.
27. Postischemic angiogenic factor expression in stroke-prone rats. Wang MM, etal., Exp Neurol 2002 Feb;173(2):283-8.
28. Expression of Tie-2 and angiopoietin-1 and -2 in early phase of ulcer healing. Wen CY, etal., J Gastroenterol. 2003;38(5):431-5.
29. The expression of angiopoietins and their receptor Tie-2 in human prostate carcinoma. Wurmbach JH, etal., Anticancer Res. 2000 Nov-Dec;20(6D):5217-20.
30. Downregulation of angiopoietin-1 and Tie2 in chronic hypoxic pulmonary hypertension. Yamamoto A, etal., Respiration. 2008;75(3):328-38. Epub 2007 Dec 10.
31. Expression of angiogenic factors is upregulated in DMBA-induced rat mammary pathologies. Yan M, etal., Pathobiology. 2004;71(5):253-60.
32. [The expression and significance of the angiopoietin-1 in the kidney of diabetic rats] Yang YB, etal., Sichuan Da Xue Xue Bao Yi Xue Ban. 2007 Jan;38(1):93-6, 104.
33. Angiopoietin1/Tie2 and VEGF/Flk1 induced by MSC treatment amplifies angiogenesis and vascular stabilization after stroke. Zacharek A, etal., J Cereb Blood Flow Metab. 2007 Mar 14;.
Additional References at PubMed
PMID:7584026   PMID:7584028   PMID:7642106   PMID:8980223   PMID:8980224   PMID:9204896   PMID:9525952   PMID:9545648   PMID:9560344   PMID:9660821   PMID:9723709   PMID:10051567  
PMID:10218485   PMID:10343124   PMID:10514510   PMID:10706866   PMID:10766762   PMID:10854239   PMID:10944458   PMID:11165944   PMID:11729102   PMID:11776343   PMID:11827452   PMID:11856872  
PMID:11870550   PMID:11891175   PMID:11967990   PMID:12168954   PMID:12213874   PMID:12239588   PMID:12243755   PMID:12402160   PMID:12427764   PMID:12477932   PMID:12612904   PMID:12649156  
PMID:12717391   PMID:12810673   PMID:12816861   PMID:12890486   PMID:12958144   PMID:12958167   PMID:14561809   PMID:14597243   PMID:14665640   PMID:14672554   PMID:14715662   PMID:14749497  
PMID:14978158   PMID:14991531   PMID:15001532   PMID:15019820   PMID:15094228   PMID:15161644   PMID:15198927   PMID:15213103   PMID:15242771   PMID:15284220   PMID:15381091   PMID:15453096  
PMID:15498854   PMID:15542434   PMID:15562207   PMID:15692086   PMID:15694363   PMID:15746084   PMID:15769741   PMID:15781448   PMID:15823283   PMID:15851516   PMID:15892598   PMID:16000309  
PMID:16020388   PMID:16049136   PMID:16229183   PMID:16354591   PMID:16547766   PMID:16614513   PMID:16645159   PMID:16690881   PMID:16723371   PMID:16803467   PMID:16830384   PMID:16917117  
PMID:16956819   PMID:17039426   PMID:17168735   PMID:17322632   PMID:17341311   PMID:17466926   PMID:17525262   PMID:17558601   PMID:17562701   PMID:17603084   PMID:17724803   PMID:17728252  
PMID:17785951   PMID:17803352   PMID:17943167   PMID:18035072   PMID:18080866   PMID:18092380   PMID:18199826   PMID:18269030   PMID:18310225   PMID:18326231   PMID:18330951   PMID:18382887  
PMID:18425120   PMID:18593464   PMID:18664247   PMID:18675456   PMID:18807212   PMID:18823985   PMID:18991494   PMID:18996102   PMID:19010534   PMID:19028450   PMID:19082480   PMID:19082594  
PMID:19086654   PMID:19127216   PMID:19148554   PMID:19199708   PMID:19223473   PMID:19297368   PMID:19300530   PMID:19301945   PMID:19322669   PMID:19339077   PMID:19351722   PMID:19424712  
PMID:19460752   PMID:19476937   PMID:19478794   PMID:19487284   PMID:19543148   PMID:19567053   PMID:19615361   PMID:19674970   PMID:19689429   PMID:19733541   PMID:19815705   PMID:19875484  
PMID:19916173   PMID:19919521   PMID:19922791   PMID:19954476   PMID:20036815   PMID:20056911   PMID:20072144   PMID:20098680   PMID:20099495   PMID:20185425   PMID:20208992   PMID:20346360  
PMID:20378606   PMID:20471887   PMID:20554518   PMID:20602615   PMID:20629092   PMID:20696814   PMID:20708158   PMID:20863203   PMID:21042788   PMID:21140268   PMID:21168819   PMID:21179479  
PMID:21212269   PMID:21273558   PMID:21300047   PMID:21380565   PMID:21400522   PMID:21660578   PMID:21672190   PMID:21710361   PMID:21778249   PMID:21849906   PMID:21858121   PMID:21873635  
PMID:21878936   PMID:21884468   PMID:21885850   PMID:21905000   PMID:21905955   PMID:21906428   PMID:21948244   PMID:22000910   PMID:22015631   PMID:22033412   PMID:22095586   PMID:22143796  
PMID:22205728   PMID:22229541   PMID:22235284   PMID:22334788   PMID:22391155   PMID:22449617   PMID:22483377   PMID:22496856   PMID:22583143   PMID:22642477   PMID:22867989   PMID:22901561  
PMID:22949515   PMID:23024612   PMID:23099117   PMID:23123737   PMID:23190105   PMID:23232696   PMID:23288163   PMID:23302768   PMID:23382691   PMID:23504320   PMID:23592718   PMID:23652985  
PMID:23686433   PMID:23734875   PMID:23755151   PMID:23770419   PMID:23785018   PMID:23835996   PMID:23840065   PMID:23915833   PMID:23989887   PMID:24010773   PMID:24126820   PMID:24315451  
PMID:24563688   PMID:24569814   PMID:24642125   PMID:24947924   PMID:25047691   PMID:25120736   PMID:25275496   PMID:25369606   PMID:25413303   PMID:25485810   PMID:25546411   PMID:25584916  
PMID:25608750   PMID:25631079   PMID:25753570   PMID:25761062   PMID:25814554   PMID:25824148   PMID:25964071   PMID:26090670   PMID:26090803   PMID:26138305   PMID:26208799   PMID:26283334  
PMID:26489624   PMID:26542693   PMID:26695562   PMID:26722421   PMID:26758427   PMID:26814432   PMID:26846344   PMID:26908294   PMID:26908325   PMID:26945868   PMID:27111031   PMID:27137842  
PMID:27240355   PMID:27304216   PMID:27358066   PMID:27569283   PMID:27632174   PMID:27695111   PMID:27703260   PMID:27802345   PMID:27846250   PMID:27894114   PMID:27956798   PMID:27990590  
PMID:27991547   PMID:28027429   PMID:28069704   PMID:28165799   PMID:28238760   PMID:28351775   PMID:28582314   PMID:28601681   PMID:28695891   PMID:28720059   PMID:28734140   PMID:28766001  
PMID:28920924   PMID:28956132   PMID:29079808   PMID:29106382   PMID:29253861   PMID:29323190   PMID:29509190   PMID:29517203   PMID:29660117   PMID:29864894   PMID:29959560   PMID:30628710  
PMID:30745813   PMID:30924128   PMID:31075243   PMID:31102187   PMID:31427082   PMID:31609020   PMID:31617500   PMID:32059166   PMID:32399088   PMID:32557524   PMID:32680471   PMID:32822567  
PMID:32875393   PMID:33536546   PMID:33713666   PMID:33961781   PMID:34153320   PMID:34326408   PMID:34366616   PMID:34643357   PMID:34726064   PMID:34856707   PMID:35271311   PMID:35848475  
PMID:36385374   PMID:36662891   PMID:37249455   PMID:39000274  


Genomics

Comparative Map Data
ANGPT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388107,249,482 - 107,497,918 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8107,249,482 - 107,498,055 (-)EnsemblGRCh38hg38GRCh38
GRCh378108,261,710 - 108,510,146 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368108,330,886 - 108,579,430 (-)NCBINCBI36Build 36hg18NCBI36
Build 348108,330,885 - 108,579,430NCBI
Celera8104,448,513 - 104,696,524 (-)NCBICelera
Cytogenetic Map8q23.1NCBI
HuRef8103,581,813 - 103,830,178 (-)NCBIHuRef
CHM1_18108,301,960 - 108,550,507 (-)NCBICHM1_1
T2T-CHM13v2.08108,377,097 - 108,625,564 (-)NCBIT2T-CHM13v2.0
Angpt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391542,288,063 - 42,540,373 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1542,288,119 - 42,540,373 (-)EnsemblGRCm39 Ensembl
GRCm381542,424,667 - 42,676,977 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1542,424,723 - 42,676,977 (-)EnsemblGRCm38mm10GRCm38
MGSCv371542,256,269 - 42,508,341 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361542,254,797 - 42,506,869 (-)NCBIMGSCv36mm8
Celera1542,923,801 - 43,172,633 (-)NCBICelera
Cytogenetic Map15B3.1NCBI
cM Map1516.69NCBI
Angpt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8775,415,959 - 75,668,696 (-)NCBIGRCr8
mRatBN7.2773,528,345 - 73,783,953 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl773,531,486 - 73,784,067 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx775,390,636 - 75,634,234 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0777,593,123 - 77,836,716 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0777,461,245 - 77,704,839 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0781,338,327 - 81,592,459 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl781,342,280 - 81,592,206 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0781,364,881 - 81,618,559 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4778,195,504 - 78,451,471 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera770,543,119 - 70,792,915 (-)NCBICelera
Cytogenetic Map7q31NCBI
Angpt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541730,198,842 - 30,386,266 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541730,199,508 - 30,386,695 (-)NCBIChiLan1.0ChiLan1.0
ANGPT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27124,617,718 - 124,863,319 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18100,139,400 - 100,383,799 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08103,893,234 - 104,137,661 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18106,039,873 - 106,287,245 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8106,042,041 - 106,286,783 (-)Ensemblpanpan1.1panPan2
ANGPT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1138,068,920 - 8,312,090 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl138,048,205 - 8,311,618 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha138,012,976 - 8,253,361 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0138,330,622 - 8,573,873 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl138,330,895 - 8,573,753 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1138,089,554 - 8,329,930 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0138,207,290 - 8,447,896 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0138,284,694 - 8,525,154 (-)NCBIUU_Cfam_GSD_1.0
Angpt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530329,679,371 - 29,900,106 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647037,105,466 - 37,328,190 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647037,105,469 - 37,328,183 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ANGPT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl429,933,135 - 30,233,960 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1429,925,203 - 30,233,434 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2432,833,909 - 32,855,132 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.2432,433,135 - 32,433,409 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.2432,646,874 - 32,751,649 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ANGPT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18102,020,346 - 102,268,443 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603938,309,531 - 38,560,517 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Angpt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476322,646,231 - 22,718,294 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476322,645,807 - 22,818,592 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ANGPT1
267 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q23.1(chr8:106784262-107356237)x3 copy number gain See cases [RCV000050784] Chr8:106784262..107356237 [GRCh38]
Chr8:107796490..108368465 [GRCh37]
Chr8:107865666..108437641 [NCBI36]
Chr8:8q23.1		 uncertain significance
GRCh38/hg38 8q22.3-23.1(chr8:105053530-107803535)x1 copy number loss See cases [RCV000051020] Chr8:105053530..107803535 [GRCh38]
Chr8:106065758..108815763 [GRCh37]
Chr8:106134934..108884939 [NCBI36]
Chr8:8q22.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q23.1-23.2(chr8:107356178-110913494)x3 copy number gain See cases [RCV000052185] Chr8:107356178..110913494 [GRCh38]
Chr8:108368406..111925723 [GRCh37]
Chr8:108437582..111994899 [NCBI36]
Chr8:8q23.1-23.2		 uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
NM_001146.3(ANGPT1):c.1060G>T (p.Glu354Ter) single nucleotide variant Malignant melanoma [RCV000068081] Chr8:107284827 [GRCh38]
Chr8:108297055 [GRCh37]
Chr8:108366231 [NCBI36]
Chr8:8q23.1		 not provided
NM_001146.3(ANGPT1):c.316G>A (p.Glu106Lys) single nucleotide variant Malignant melanoma [RCV000068082] Chr8:107347079 [GRCh38]
Chr8:108359307 [GRCh37]
Chr8:108428483 [NCBI36]
Chr8:8q23.1		 not provided
NM_001146.3(ANGPT1):c.18C>T (p.Ser6=) single nucleotide variant Malignant melanoma [RCV000068083] Chr8:107497541 [GRCh38]
Chr8:108509769 [GRCh37]
Chr8:108578945 [NCBI36]
Chr8:8q23.1		 not provided
NM_001146.3(ANGPT1):c.1336+1G>A single nucleotide variant Malignant melanoma [RCV000061720] Chr8:107264220 [GRCh38]
Chr8:108276448 [GRCh37]
Chr8:108345624 [NCBI36]
Chr8:8q23.1		 not provided
NM_001146.3(ANGPT1):c.1238G>A (p.Gly413Glu) single nucleotide variant Malignant melanoma [RCV000061721] Chr8:107264319 [GRCh38]
Chr8:108276547 [GRCh37]
Chr8:108345723 [NCBI36]
Chr8:8q23.1		 not provided
NM_001146.3(ANGPT1):c.640G>A (p.Glu214Lys) single nucleotide variant Malignant melanoma [RCV000061722] Chr8:107322064 [GRCh38]
Chr8:108334292 [GRCh37]
Chr8:108403468 [NCBI36]
Chr8:8q23.1		 not provided
NM_001146.3(ANGPT1):c.809-8557G>A single nucleotide variant Lung cancer [RCV000106778] Chr8:107311924 [GRCh38]
Chr8:108324152 [GRCh37]
Chr8:8q23.1		 uncertain significance
GRCh38/hg38 8q23.1(chr8:106840281-107356143)x3 copy number gain See cases [RCV000134724] Chr8:106840281..107356143 [GRCh38]
Chr8:107852509..108368371 [GRCh37]
Chr8:107921685..108437547 [NCBI36]
Chr8:8q23.1		 likely benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1 copy number loss See cases [RCV000134099] Chr8:101884819..107356143 [GRCh38]
Chr8:102897047..108368371 [GRCh37]
Chr8:102966223..108437547 [NCBI36]
Chr8:8q22.3-23.1		 pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23		 pathogenic|likely pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1 copy number loss See cases [RCV000138134] Chr8:101171263..109127664 [GRCh38]
Chr8:102183491..110139893 [GRCh37]
Chr8:102252667..110209069 [NCBI36]
Chr8:8q22.3-23.1		 pathogenic
GRCh38/hg38 8q23.1(chr8:106784262-107380780)x3 copy number gain See cases [RCV000138560] Chr8:106784262..107380780 [GRCh38]
Chr8:107796490..108393008 [GRCh37]
Chr8:107865666..108462184 [NCBI36]
Chr8:8q23.1		 likely benign|uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8q23.1(chr8:106801494-107326594)x3 copy number gain See cases [RCV000139123] Chr8:106801494..107326594 [GRCh38]
Chr8:107813722..108338822 [GRCh37]
Chr8:107882898..108407998 [NCBI36]
Chr8:8q23.1		 uncertain significance
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic
GRCh38/hg38 8q23.1(chr8:106805128-107380054)x3 copy number gain See cases [RCV000142346] Chr8:106805128..107380054 [GRCh38]
Chr8:107817356..108392282 [GRCh37]
Chr8:107886532..108461458 [NCBI36]
Chr8:8q23.1		 uncertain significance
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)x1 copy number loss See cases [RCV000448650] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3		 pathogenic
GRCh37/hg19 8q23.1(chr8:107817356-108392816)x4 copy number gain See cases [RCV000511782] Chr8:107817356..108392816 [GRCh37]
Chr8:8q23.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q23.1(chr8:107819033-108392816)x3 copy number gain not provided [RCV000682986] Chr8:107819033..108392816 [GRCh37]
Chr8:8q23.1		 likely benign
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q23.1(chr8:107807716-108389187)x3 copy number gain not provided [RCV000747763] Chr8:107807716..108389187 [GRCh37]
Chr8:8q23.1		 benign
GRCh37/hg19 8q23.1(chr8:108504907-108506185)x1 copy number loss not provided [RCV000747764] Chr8:108504907..108506185 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.1151G>A (p.Arg384Gln) single nucleotide variant ANGPT1-related disorder [RCV003978338]|Hereditary angioedema type 3 [RCV001258396]|not provided [RCV000959033] Chr8:107284736 [GRCh38]
Chr8:108296964 [GRCh37]
Chr8:8q23.1		 likely benign|uncertain significance
NM_001146.5(ANGPT1):c.156C>A (p.Gly52=) single nucleotide variant not provided [RCV000966205]|not specified [RCV001729761] Chr8:107497403 [GRCh38]
Chr8:108509631 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.396C>A (p.Thr132=) single nucleotide variant not provided [RCV000894192] Chr8:107346999 [GRCh38]
Chr8:108359227 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.228G>A (p.Pro76=) single nucleotide variant not provided [RCV000966204]|not specified [RCV001701386] Chr8:107497331 [GRCh38]
Chr8:108509559 [GRCh37]
Chr8:8q23.1		 benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1 copy number loss not provided [RCV000847013] Chr8:104437051..114170843 [GRCh37]
Chr8:8q22.3-23.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NC_000008.10:g.(?_108264083)_(108509786_?)dup duplication not provided [RCV003105581] Chr8:108264083..108509786 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.809-19dup duplication not provided [RCV001657294] Chr8:107303371..107303372 [GRCh38]
Chr8:108315599..108315600 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.936+191A>C single nucleotide variant not provided [RCV001675092] Chr8:107303049 [GRCh38]
Chr8:108315277 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.1337-30T>C single nucleotide variant not provided [RCV001649601] Chr8:107252045 [GRCh38]
Chr8:108264273 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.1038+204C>T single nucleotide variant not provided [RCV001670863] Chr8:107293732 [GRCh38]
Chr8:108305960 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.297+158G>C single nucleotide variant not provided [RCV001685722] Chr8:107497104 [GRCh38]
Chr8:108509332 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.576-187dup duplication not provided [RCV001641080] Chr8:107322314..107322315 [GRCh38]
Chr8:108334542..108334543 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.937-238G>T single nucleotide variant not provided [RCV001676710] Chr8:107294275 [GRCh38]
Chr8:108306503 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.556A>C (p.Lys186Gln) single nucleotide variant not provided [RCV003106677] Chr8:107336169 [GRCh38]
Chr8:108348397 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.453+144C>T single nucleotide variant not provided [RCV001638538] Chr8:107346798 [GRCh38]
Chr8:108359026 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.453+122T>C single nucleotide variant not provided [RCV001645746] Chr8:107346820 [GRCh38]
Chr8:108359048 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.809-19_809-18dup duplication not provided [RCV001693281] Chr8:107303371..107303372 [GRCh38]
Chr8:108315599..108315600 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.937-222T>C single nucleotide variant not provided [RCV001615953] Chr8:107294259 [GRCh38]
Chr8:108306487 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.937-102A>G single nucleotide variant not provided [RCV001666189] Chr8:107294139 [GRCh38]
Chr8:108306367 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.809-211del deletion not provided [RCV001614554] Chr8:107303578 [GRCh38]
Chr8:108315806 [GRCh37]
Chr8:8q23.1		 benign
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001146.5(ANGPT1):c.1110G>C (p.Gln370His) single nucleotide variant Hereditary angioedema type 3 [RCV001258395]|not provided [RCV001879988] Chr8:107284777 [GRCh38]
Chr8:108297005 [GRCh37]
Chr8:8q23.1		 uncertain significance
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13		 pathogenic
NM_001146.5(ANGPT1):c.747G>A (p.Lys249=) single nucleotide variant not provided [RCV001422942] Chr8:107321957 [GRCh38]
Chr8:108334185 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1038+3A>G single nucleotide variant not provided [RCV001367818] Chr8:107293933 [GRCh38]
Chr8:108306161 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.453+3A>G single nucleotide variant not provided [RCV001307269] Chr8:107346939 [GRCh38]
Chr8:108359167 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.355G>T (p.Ala119Ser) single nucleotide variant Angioedema, hereditary, 5 [RCV001507294]|not provided [RCV001865920] Chr8:107347040 [GRCh38]
Chr8:108359268 [GRCh37]
Chr8:8q23.1		 pathogenic|uncertain significance
NM_001146.5(ANGPT1):c.1411C>T (p.Leu471=) single nucleotide variant not provided [RCV001471402] Chr8:107251941 [GRCh38]
Chr8:108264169 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.279T>C (p.Tyr93=) single nucleotide variant not provided [RCV001403947] Chr8:107497280 [GRCh38]
Chr8:108509508 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1480C>T (p.Arg494Ter) single nucleotide variant not provided [RCV001450094] Chr8:107251872 [GRCh38]
Chr8:108264100 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1038+9C>G single nucleotide variant not provided [RCV001522106] Chr8:107293927 [GRCh38]
Chr8:108306155 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.770C>A (p.Thr257Lys) single nucleotide variant not provided [RCV001522107] Chr8:107321934 [GRCh38]
Chr8:107321934..107321935 [GRCh38]
Chr8:108334162 [GRCh37]
Chr8:108334162..108334163 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.1206-22dup duplication not provided [RCV001509721] Chr8:107264365..107264366 [GRCh38]
Chr8:108276593..108276594 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.936+6A>G single nucleotide variant not provided [RCV001516500] Chr8:107303234 [GRCh38]
Chr8:108315462 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.369C>A (p.His123Gln) single nucleotide variant not provided [RCV002025419] Chr8:107347026 [GRCh38]
Chr8:108359254 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.529C>A (p.Leu177Ile) single nucleotide variant not provided [RCV001984400] Chr8:107336196 [GRCh38]
Chr8:108348424 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.487C>G (p.Leu163Val) single nucleotide variant not provided [RCV001914900] Chr8:107336238 [GRCh38]
Chr8:108348466 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.671C>T (p.Thr224Ile) single nucleotide variant not provided [RCV001986179] Chr8:107322033 [GRCh38]
Chr8:108334261 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.980_984del (p.Ile327fs) deletion not provided [RCV002002720] Chr8:107293990..107293994 [GRCh38]
Chr8:108306218..108306222 [GRCh37]
Chr8:8q23.1		 uncertain significance
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018) copy number loss not specified [RCV002053793] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12		 pathogenic
NM_001146.5(ANGPT1):c.4A>G (p.Thr2Ala) single nucleotide variant not provided [RCV002008066] Chr8:107497555 [GRCh38]
Chr8:108509783 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.285G>C (p.Gln95His) single nucleotide variant not provided [RCV001908837] Chr8:107497274 [GRCh38]
Chr8:108509502 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.763A>G (p.Met255Val) single nucleotide variant not provided [RCV002004173] Chr8:107321941 [GRCh38]
Chr8:108334169 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.170G>C (p.Ser57Thr) single nucleotide variant not provided [RCV002004234] Chr8:107497389 [GRCh38]
Chr8:108509617 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1481G>A (p.Arg494Gln) single nucleotide variant not provided [RCV002004366] Chr8:107251871 [GRCh38]
Chr8:108264099 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.821G>A (p.Gly274Glu) single nucleotide variant not provided [RCV001984093] Chr8:107303355 [GRCh38]
Chr8:108315583 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.342G>C (p.Gln114His) single nucleotide variant not provided [RCV002024341] Chr8:107347053 [GRCh38]
Chr8:108359281 [GRCh37]
Chr8:8q23.1		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_001146.5(ANGPT1):c.319A>T (p.Asn107Tyr) single nucleotide variant not provided [RCV001893455] Chr8:107347076 [GRCh38]
Chr8:108359304 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1114A>G (p.Met372Val) single nucleotide variant not provided [RCV001892773] Chr8:107284773 [GRCh38]
Chr8:108297001 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1064A>G (p.Tyr355Cys) single nucleotide variant not provided [RCV002001169] Chr8:107284823 [GRCh38]
Chr8:108297051 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.220G>A (p.Val74Met) single nucleotide variant not provided [RCV001886740] Chr8:107497339 [GRCh38]
Chr8:108509567 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.296A>G (p.Lys99Arg) single nucleotide variant not provided [RCV002031108] Chr8:107497263 [GRCh38]
Chr8:108509491 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1380G>A (p.Met460Ile) single nucleotide variant not provided [RCV002036817] Chr8:107251972 [GRCh38]
Chr8:108264200 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.818A>G (p.Lys273Arg) single nucleotide variant not provided [RCV002047588] Chr8:107303358 [GRCh38]
Chr8:108315586 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.767A>G (p.Asp256Gly) single nucleotide variant not provided [RCV001931944] Chr8:107321937 [GRCh38]
Chr8:108334165 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.635del (p.Thr211_Leu212insTer) deletion not provided [RCV002020184] Chr8:107322069 [GRCh38]
Chr8:108334297 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.949A>G (p.Met317Val) single nucleotide variant not provided [RCV002015639] Chr8:107294025 [GRCh38]
Chr8:108306253 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.575+5G>A single nucleotide variant not provided [RCV001957111] Chr8:107336145 [GRCh38]
Chr8:108348373 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.647A>G (p.Lys216Arg) single nucleotide variant not provided [RCV001920839] Chr8:107322057 [GRCh38]
Chr8:108334285 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1469C>T (p.Thr490Ile) single nucleotide variant not provided [RCV001917030] Chr8:107251883 [GRCh38]
Chr8:108264111 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.125C>T (p.Ala42Val) single nucleotide variant not provided [RCV001931773] Chr8:107497434 [GRCh38]
Chr8:108509662 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.849T>G (p.Phe283Leu) single nucleotide variant not provided [RCV002046212] Chr8:107303327 [GRCh38]
Chr8:108315555 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1164G>T (p.Gln388His) single nucleotide variant not provided [RCV001976394] Chr8:107284723 [GRCh38]
Chr8:108296951 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1184G>A (p.Gly395Glu) single nucleotide variant not provided [RCV001866943] Chr8:107284703 [GRCh38]
Chr8:108296931 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.154G>A (p.Gly52Ser) single nucleotide variant not provided [RCV001921658] Chr8:107497405 [GRCh38]
Chr8:108509633 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1336+4A>G single nucleotide variant not provided [RCV001978545] Chr8:107264217 [GRCh38]
Chr8:108276445 [GRCh37]
Chr8:8q23.1		 uncertain significance
NC_000008.10:g.(?_108264083)_(108359345_?)dup duplication not provided [RCV001877443] Chr8:108264083..108359345 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.678A>T (p.Gln226His) single nucleotide variant not provided [RCV001952056] Chr8:107322026 [GRCh38]
Chr8:108334254 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.658C>G (p.Gln220Glu) single nucleotide variant not provided [RCV001904258] Chr8:107322046 [GRCh38]
Chr8:108334274 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.878G>C (p.Gly293Ala) single nucleotide variant not provided [RCV001884187] Chr8:107303298 [GRCh38]
Chr8:108315526 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.533T>A (p.Leu178His) single nucleotide variant not provided [RCV001973620] Chr8:107336192 [GRCh38]
Chr8:108348420 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.946A>G (p.Asn316Asp) single nucleotide variant not provided [RCV001884324] Chr8:107294028 [GRCh38]
Chr8:108306256 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1411C>A (p.Leu471Met) single nucleotide variant not provided [RCV001938149] Chr8:107251941 [GRCh38]
Chr8:108264169 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.932A>G (p.Lys311Arg) single nucleotide variant not provided [RCV002029593] Chr8:107303244 [GRCh38]
Chr8:108315472 [GRCh37]
Chr8:8q23.1		 uncertain significance
NC_000008.10:g.(?_108264083)_(108264263_?)dup duplication not provided [RCV001981918] Chr8:108264083..108264263 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.901A>G (p.Thr301Ala) single nucleotide variant not provided [RCV001920350] Chr8:107303275 [GRCh38]
Chr8:108315503 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.674G>A (p.Arg225His) single nucleotide variant not provided [RCV001916697] Chr8:107322030 [GRCh38]
Chr8:108334258 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.784G>C (p.Val262Leu) single nucleotide variant not provided [RCV001973101] Chr8:107321920 [GRCh38]
Chr8:108334148 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1263C>T (p.His421=) single nucleotide variant not provided [RCV002111983] Chr8:107264294 [GRCh38]
Chr8:108276522 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.454-7_454-3del deletion not provided [RCV002090919] Chr8:107336274..107336278 [GRCh38]
Chr8:108348502..108348506 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1194G>A (p.Lys398=) single nucleotide variant not provided [RCV002129066] Chr8:107284693 [GRCh38]
Chr8:108296921 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.489G>A (p.Leu163=) single nucleotide variant not provided [RCV002075394] Chr8:107336236 [GRCh38]
Chr8:108348464 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.297+10T>C single nucleotide variant not provided [RCV002128486] Chr8:107497252 [GRCh38]
Chr8:108509480 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1038+18A>T single nucleotide variant not provided [RCV002207253] Chr8:107293918 [GRCh38]
Chr8:108306146 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.808+18A>G single nucleotide variant not provided [RCV002125022] Chr8:107321878 [GRCh38]
Chr8:108334106 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.1206-15del deletion not provided [RCV002127303] Chr8:107264366 [GRCh38]
Chr8:108276594 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.774C>G (p.Val258=) single nucleotide variant not provided [RCV002080796] Chr8:107321930 [GRCh38]
Chr8:108334158 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1146G>T (p.Gly382=) single nucleotide variant not provided [RCV002114851] Chr8:107284741 [GRCh38]
Chr8:108296969 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1455C>T (p.Ser485=) single nucleotide variant not provided [RCV002091730] Chr8:107251897 [GRCh38]
Chr8:108264125 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.753A>G (p.Gln251=) single nucleotide variant not provided [RCV002114999] Chr8:107321951 [GRCh38]
Chr8:108334179 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1337-18T>G single nucleotide variant not provided [RCV002197527] Chr8:107252033 [GRCh38]
Chr8:108264261 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1039-4C>T single nucleotide variant not provided [RCV002193343] Chr8:107284852 [GRCh38]
Chr8:108297080 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.102C>T (p.Asn34=) single nucleotide variant not provided [RCV002113443] Chr8:107497457 [GRCh38]
Chr8:108509685 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1092C>T (p.Ala364=) single nucleotide variant not provided [RCV002151730] Chr8:107284795 [GRCh38]
Chr8:108297023 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.936+12del deletion not provided [RCV002152805] Chr8:107303228 [GRCh38]
Chr8:108315456 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.720T>C (p.Ala240=) single nucleotide variant not provided [RCV002151235] Chr8:107321984 [GRCh38]
Chr8:108334212 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.816A>G (p.Leu272=) single nucleotide variant not provided [RCV002146828] Chr8:107303360 [GRCh38]
Chr8:108315588 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1039-12A>G single nucleotide variant not provided [RCV002213075] Chr8:107284860 [GRCh38]
Chr8:108297088 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.576-13C>A single nucleotide variant not provided [RCV002134054] Chr8:107322141 [GRCh38]
Chr8:108334369 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.936+19G>T single nucleotide variant not provided [RCV002139945] Chr8:107303221 [GRCh38]
Chr8:108315449 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.937-12T>C single nucleotide variant not provided [RCV002164153] Chr8:107294049 [GRCh38]
Chr8:108306277 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.252A>G (p.Gln84=) single nucleotide variant not provided [RCV002117756] Chr8:107497307 [GRCh38]
Chr8:108509535 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.199C>T (p.Leu67=) single nucleotide variant not provided [RCV002142848] Chr8:107497360 [GRCh38]
Chr8:108509588 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.453+11G>C single nucleotide variant not provided [RCV002154573] Chr8:107346931 [GRCh38]
Chr8:108359159 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1456T>C (p.Leu486=) single nucleotide variant not provided [RCV002082818] Chr8:107251896 [GRCh38]
Chr8:108264124 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1206-18T>G single nucleotide variant not provided [RCV002183649] Chr8:107264369 [GRCh38]
Chr8:108276597 [GRCh37]
Chr8:8q23.1		 likely benign
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NM_001146.5(ANGPT1):c.354T>C (p.Asn118=) single nucleotide variant not provided [RCV002136385] Chr8:107347041 [GRCh38]
Chr8:108359269 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.937-20C>T single nucleotide variant not provided [RCV002184679] Chr8:107294057 [GRCh38]
Chr8:108306285 [GRCh37]
Chr8:8q23.1		 likely benign
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3 copy number gain not provided [RCV002474526] Chr8:79409349..119040631 [GRCh37]
Chr8:8q21.12-24.11		 pathogenic
NM_001146.5(ANGPT1):c.1152A>G (p.Arg384=) single nucleotide variant not provided [RCV002771048] Chr8:107284735 [GRCh38]
Chr8:108296963 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.215C>G (p.Pro72Arg) single nucleotide variant not provided [RCV002816392] Chr8:107497344 [GRCh38]
Chr8:108509572 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.959A>G (p.Asn320Ser) single nucleotide variant Inborn genetic diseases [RCV002733104] Chr8:107294015 [GRCh38]
Chr8:108306243 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.454-9dup duplication not provided [RCV002948117] Chr8:107336279..107336280 [GRCh38]
Chr8:108348507..108348508 [GRCh37]
Chr8:8q23.1		 benign
NM_001146.5(ANGPT1):c.453+16A>T single nucleotide variant not provided [RCV002881572] Chr8:107346926 [GRCh38]
Chr8:108359154 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.461A>C (p.Asn154Thr) single nucleotide variant not provided [RCV002776039] Chr8:107336264 [GRCh38]
Chr8:108348492 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.994G>A (p.Asp332Asn) single nucleotide variant not provided [RCV002947379] Chr8:107293980 [GRCh38]
Chr8:108306208 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.218A>C (p.His73Pro) single nucleotide variant not provided [RCV002591798] Chr8:107497341 [GRCh38]
Chr8:108509569 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.164G>C (p.Arg55Pro) single nucleotide variant not provided [RCV003002984] Chr8:107497395 [GRCh38]
Chr8:108509623 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.746A>G (p.Lys249Arg) single nucleotide variant not provided [RCV003037301] Chr8:107321958 [GRCh38]
Chr8:108334186 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.453+14C>A single nucleotide variant not provided [RCV002795305] Chr8:107346928 [GRCh38]
Chr8:108359156 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.656T>C (p.Leu219Pro) single nucleotide variant not provided [RCV003018557] Chr8:107322048 [GRCh38]
Chr8:108334276 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.937-10C>T single nucleotide variant not provided [RCV002706773] Chr8:107294047 [GRCh38]
Chr8:108306275 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.756G>A (p.Leu252=) single nucleotide variant not provided [RCV002705383] Chr8:107321948 [GRCh38]
Chr8:108334176 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1477A>G (p.Ile493Val) single nucleotide variant not provided [RCV002622803] Chr8:107251875 [GRCh38]
Chr8:108264103 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.706C>T (p.Gln236Ter) single nucleotide variant not provided [RCV003037302] Chr8:107321998 [GRCh38]
Chr8:108334226 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.30C>T (p.Leu10=) single nucleotide variant not provided [RCV003038789] Chr8:107497529 [GRCh38]
Chr8:108509757 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1153G>C (p.Ala385Pro) single nucleotide variant not provided [RCV003025229] Chr8:107284734 [GRCh38]
Chr8:108296962 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.169A>G (p.Ser57Gly) single nucleotide variant not provided [RCV002666790] Chr8:107497390 [GRCh38]
Chr8:108509618 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.213T>A (p.Ala71=) single nucleotide variant not provided [RCV002666847] Chr8:107497346 [GRCh38]
Chr8:108509574 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.681A>G (p.Thr227=) single nucleotide variant not provided [RCV003082527] Chr8:107322023 [GRCh38]
Chr8:108334251 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.242A>G (p.Gln81Arg) single nucleotide variant not provided [RCV003082613] Chr8:107497317 [GRCh38]
Chr8:108509545 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.215C>T (p.Pro72Leu) single nucleotide variant not provided [RCV003006376] Chr8:107497344 [GRCh38]
Chr8:108509572 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.716G>T (p.Arg239Ile) single nucleotide variant not provided [RCV002828082] Chr8:107321988 [GRCh38]
Chr8:108334216 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.330G>A (p.Ser110=) single nucleotide variant not provided [RCV002625681] Chr8:107347065 [GRCh38]
Chr8:108359293 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.216A>G (p.Pro72=) single nucleotide variant not provided [RCV002626908] Chr8:107497343 [GRCh38]
Chr8:108509571 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.282T>A (p.Thr94=) single nucleotide variant not provided [RCV002711044] Chr8:107497277 [GRCh38]
Chr8:108509505 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.453+20T>G single nucleotide variant not provided [RCV003055836] Chr8:107346922 [GRCh38]
Chr8:108359150 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.28C>T (p.Leu10Phe) single nucleotide variant not provided [RCV002594702] Chr8:107497531 [GRCh38]
Chr8:108509759 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.963G>A (p.Gly321=) single nucleotide variant not provided [RCV002851801] Chr8:107294011 [GRCh38]
Chr8:108306239 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.781C>A (p.Leu261Ile) single nucleotide variant not provided [RCV003024252] Chr8:107321923 [GRCh38]
Chr8:108334151 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1155C>G (p.Ala385=) single nucleotide variant not provided [RCV002712067] Chr8:107284732 [GRCh38]
Chr8:108296960 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.685A>G (p.Ile229Val) single nucleotide variant not provided [RCV002711852] Chr8:107322019 [GRCh38]
Chr8:108334247 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.537A>G (p.Gln179=) single nucleotide variant not provided [RCV002624296] Chr8:107336188 [GRCh38]
Chr8:108348416 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1459C>T (p.Arg487Cys) single nucleotide variant not provided [RCV002601023] Chr8:107251893 [GRCh38]
Chr8:108264121 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.740T>C (p.Leu247Pro) single nucleotide variant not provided [RCV002628158] Chr8:107321964 [GRCh38]
Chr8:108334192 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.641A>G (p.Glu214Gly) single nucleotide variant not provided [RCV002922313] Chr8:107322063 [GRCh38]
Chr8:108334291 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.808G>A (p.Val270Ile) single nucleotide variant not provided [RCV002746431] Chr8:107321896 [GRCh38]
Chr8:108334124 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.399_400dup (p.Leu134fs) duplication not provided [RCV002807220] Chr8:107346994..107346995 [GRCh38]
Chr8:108359222..108359223 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.673C>T (p.Arg225Cys) single nucleotide variant not provided [RCV002577127] Chr8:107322031 [GRCh38]
Chr8:108334259 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.324G>A (p.Met108Ile) single nucleotide variant not provided [RCV002810682] Chr8:107347071 [GRCh38]
Chr8:108359299 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1003C>T (p.Leu335=) single nucleotide variant not provided [RCV003063568] Chr8:107293971 [GRCh38]
Chr8:108306199 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.667G>A (p.Val223Ile) single nucleotide variant not provided [RCV002717205] Chr8:107322037 [GRCh38]
Chr8:108334265 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.707A>G (p.Gln236Arg) single nucleotide variant not provided [RCV003044349] Chr8:107321997 [GRCh38]
Chr8:108334225 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.648A>G (p.Lys216=) single nucleotide variant not provided [RCV002604939] Chr8:107322056 [GRCh38]
Chr8:108334284 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.747_748delinsAA (p.Gln250Lys) indel not provided [RCV002604311] Chr8:107321956..107321957 [GRCh38]
Chr8:108334184..108334185 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1056C>T (p.Ser352=) single nucleotide variant not provided [RCV002654794] Chr8:107284831 [GRCh38]
Chr8:108297059 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.454-13C>T single nucleotide variant not provided [RCV002587733] Chr8:107336284 [GRCh38]
Chr8:108348512 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1269T>C (p.Ala423=) single nucleotide variant not provided [RCV002606772] Chr8:107264288 [GRCh38]
Chr8:108276516 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1178A>T (p.His393Leu) single nucleotide variant not provided [RCV002585292] Chr8:107284709 [GRCh38]
Chr8:108296937 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.454-17T>C single nucleotide variant not provided [RCV002589130] Chr8:107336288 [GRCh38]
Chr8:108348516 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1205+11C>T single nucleotide variant not provided [RCV002584416] Chr8:107284671 [GRCh38]
Chr8:108296899 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.996T>C (p.Asp332=) single nucleotide variant not provided [RCV003873396] Chr8:107293978 [GRCh38]
Chr8:108306206 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1481G>C (p.Arg494Pro) single nucleotide variant not provided [RCV003571236] Chr8:107251871 [GRCh38]
Chr8:108264099 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.49A>G (p.Ile17Val) single nucleotide variant not provided [RCV003873778] Chr8:107497510 [GRCh38]
Chr8:108509738 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.606A>G (p.Glu202=) single nucleotide variant not provided [RCV003570678] Chr8:107322098 [GRCh38]
Chr8:108334326 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.977T>C (p.Val326Ala) single nucleotide variant not provided [RCV003571644] Chr8:107293997 [GRCh38]
Chr8:108306225 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.653A>C (p.Asn218Thr) single nucleotide variant not provided [RCV003686206] Chr8:107322051 [GRCh38]
Chr8:108334279 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.306T>A (p.Asn102Lys) single nucleotide variant ANGPT1-related disorder [RCV003412247] Chr8:107347089 [GRCh38]
Chr8:108359317 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.453+17G>A single nucleotide variant not provided [RCV003829345] Chr8:107346925 [GRCh38]
Chr8:108359153 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1336+14G>A single nucleotide variant not provided [RCV003577134] Chr8:107264207 [GRCh38]
Chr8:108276435 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.554T>A (p.Leu185Ter) single nucleotide variant not provided [RCV003713665] Chr8:107336171 [GRCh38]
Chr8:108348399 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.110A>G (p.Gln37Arg) single nucleotide variant not provided [RCV003828715] Chr8:107497449 [GRCh38]
Chr8:108509677 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.541A>G (p.Thr181Ala) single nucleotide variant not provided [RCV003879563] Chr8:107336184 [GRCh38]
Chr8:108348412 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1117C>T (p.Leu373=) single nucleotide variant not provided [RCV003690822] Chr8:107284770 [GRCh38]
Chr8:108296998 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.310A>G (p.Ile104Val) single nucleotide variant not provided [RCV003827154] Chr8:107347085 [GRCh38]
Chr8:108359313 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.551T>C (p.Ile184Thr) single nucleotide variant not provided [RCV003687307] Chr8:107336174 [GRCh38]
Chr8:108348402 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.504A>G (p.Leu168=) single nucleotide variant not provided [RCV003545861] Chr8:107336221 [GRCh38]
Chr8:108348449 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.297+19T>G single nucleotide variant not provided [RCV003848840] Chr8:107497243 [GRCh38]
Chr8:108509471 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.100A>G (p.Asn34Asp) single nucleotide variant not provided [RCV003739111] Chr8:107497459 [GRCh38]
Chr8:108509687 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.811T>G (p.Leu271Val) single nucleotide variant not provided [RCV003576742] Chr8:107303365 [GRCh38]
Chr8:108315593 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.759G>A (p.Glu253=) single nucleotide variant not provided [RCV003689554] Chr8:107321945 [GRCh38]
Chr8:108334173 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.986A>G (p.His329Arg) single nucleotide variant not provided [RCV003661927] Chr8:107293988 [GRCh38]
Chr8:108306216 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.298-4G>A single nucleotide variant not provided [RCV003831000] Chr8:107347101 [GRCh38]
Chr8:108359329 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1120del (p.Arg374fs) deletion not provided [RCV003690821] Chr8:107284767 [GRCh38]
Chr8:108296995 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.937-5G>A single nucleotide variant not provided [RCV003573320] Chr8:107294042 [GRCh38]
Chr8:108306270 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1088T>C (p.Phe363Ser) single nucleotide variant not provided [RCV003662478] Chr8:107284799 [GRCh38]
Chr8:108297027 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.576-18A>C single nucleotide variant not provided [RCV003575213] Chr8:107322146 [GRCh38]
Chr8:108334374 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.655C>G (p.Leu219Val) single nucleotide variant not provided [RCV003850727] Chr8:107322049 [GRCh38]
Chr8:108334277 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.71G>A (p.Arg24Gln) single nucleotide variant not provided [RCV003663868] Chr8:107497488 [GRCh38]
Chr8:108509716 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.520G>C (p.Glu174Gln) single nucleotide variant not provided [RCV003833430] Chr8:107336205 [GRCh38]
Chr8:108348433 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1255A>T (p.Ile419Phe) single nucleotide variant not provided [RCV003548587] Chr8:107264302 [GRCh38]
Chr8:108276530 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.540G>T (p.Gln180His) single nucleotide variant not provided [RCV003548507] Chr8:107336185 [GRCh38]
Chr8:108348413 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.197C>T (p.Ala66Val) single nucleotide variant not provided [RCV003856649] Chr8:107497362 [GRCh38]
Chr8:108509590 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.730A>G (p.Asn244Asp) single nucleotide variant not provided [RCV003725080] Chr8:107321974 [GRCh38]
Chr8:108334202 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.499T>G (p.Ser167Ala) single nucleotide variant not provided [RCV003702605] Chr8:107336226 [GRCh38]
Chr8:108348454 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.517C>T (p.Leu173=) single nucleotide variant not provided [RCV003837575] Chr8:107336208 [GRCh38]
Chr8:108348436 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.467C>T (p.Thr156Ile) single nucleotide variant not provided [RCV003549274] Chr8:107336258 [GRCh38]
Chr8:108348486 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.936+6A>C single nucleotide variant not provided [RCV003836177] Chr8:107303234 [GRCh38]
Chr8:108315462 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.553T>C (p.Leu185=) single nucleotide variant not provided [RCV003849767] Chr8:107336172 [GRCh38]
Chr8:108348400 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.357A>G (p.Ala119=) single nucleotide variant not provided [RCV003851937] Chr8:107347038 [GRCh38]
Chr8:108359266 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.962G>A (p.Gly321Glu) single nucleotide variant not provided [RCV003855698] Chr8:107294012 [GRCh38]
Chr8:108306240 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.867A>G (p.Val289=) single nucleotide variant not provided [RCV003668205] Chr8:107303309 [GRCh38]
Chr8:108315537 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1431C>T (p.His477=) single nucleotide variant not provided [RCV003674116] Chr8:107251921 [GRCh38]
Chr8:108264149 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.564T>C (p.His188=) single nucleotide variant not provided [RCV003723688] Chr8:107336161 [GRCh38]
Chr8:108348389 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.229G>A (p.Asp77Asn) single nucleotide variant not provided [RCV003838536] Chr8:107497330 [GRCh38]
Chr8:108509558 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.264T>A (p.His88Gln) single nucleotide variant not provided [RCV003855449] Chr8:107497295 [GRCh38]
Chr8:108509523 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.526C>T (p.Gln176Ter) single nucleotide variant not provided [RCV003863809] Chr8:107336199 [GRCh38]
Chr8:108348427 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.809-10T>C single nucleotide variant not provided [RCV003730756] Chr8:107303377 [GRCh38]
Chr8:108315605 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.126C>T (p.Ala42=) single nucleotide variant not provided [RCV003823814] Chr8:107497433 [GRCh38]
Chr8:108509661 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.453+18A>T single nucleotide variant not provided [RCV003843813] Chr8:107346924 [GRCh38]
Chr8:108359152 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.684T>C (p.Tyr228=) single nucleotide variant not provided [RCV003862046] Chr8:107322020 [GRCh38]
Chr8:108334248 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.68G>A (p.Arg23His) single nucleotide variant not provided [RCV003821644] Chr8:107497491 [GRCh38]
Chr8:108509719 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.386A>G (p.Glu129Gly) single nucleotide variant not provided [RCV003681320] Chr8:107347009 [GRCh38]
Chr8:108359237 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.314T>C (p.Val105Ala) single nucleotide variant not provided [RCV003553432] Chr8:107347081 [GRCh38]
Chr8:108359309 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.645G>T (p.Glu215Asp) single nucleotide variant not provided [RCV003842390] Chr8:107322059 [GRCh38]
Chr8:108334287 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.708A>G (p.Gln236=) single nucleotide variant not provided [RCV003841702] Chr8:107321996 [GRCh38]
Chr8:108334224 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1039-14A>G single nucleotide variant not provided [RCV003847420] Chr8:107284862 [GRCh38]
Chr8:108297090 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.665T>G (p.Leu222Trp) single nucleotide variant not provided [RCV003685194] Chr8:107322039 [GRCh38]
Chr8:108334267 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.103C>T (p.Arg35Trp) single nucleotide variant not provided [RCV003686145] Chr8:107497456 [GRCh38]
Chr8:108509684 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.369C>T (p.His123=) single nucleotide variant not provided [RCV003733600] Chr8:107347026 [GRCh38]
Chr8:108359254 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.311T>C (p.Ile104Thr) single nucleotide variant not provided [RCV003722733] Chr8:107347084 [GRCh38]
Chr8:108359312 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.639G>C (p.Lys213Asn) single nucleotide variant not provided [RCV003679301] Chr8:107322065 [GRCh38]
Chr8:108334293 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1460G>A (p.Arg487His) single nucleotide variant not provided [RCV003821607] Chr8:107251892 [GRCh38]
Chr8:108264120 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.132T>C (p.Thr44=) single nucleotide variant not provided [RCV003818825] Chr8:107497427 [GRCh38]
Chr8:108509655 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.429A>G (p.Arg143=) single nucleotide variant not provided [RCV003567597] Chr8:107346966 [GRCh38]
Chr8:108359194 [GRCh37]
Chr8:8q23.1		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001146.5(ANGPT1):c.1186A>C (p.Asn396His) single nucleotide variant not provided [RCV003718957] Chr8:107284701 [GRCh38]
Chr8:108296929 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.447G>C (p.Glu149Asp) single nucleotide variant not provided [RCV003563350] Chr8:107346948 [GRCh38]
Chr8:108359176 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.168G>A (p.Glu56=) single nucleotide variant not provided [RCV003852976] Chr8:107497391 [GRCh38]
Chr8:108509619 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.48C>G (p.His16Gln) single nucleotide variant ANGPT1-related disorder [RCV003981172]|not provided [RCV003867355] Chr8:107497511 [GRCh38]
Chr8:108509739 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1206-13T>C single nucleotide variant not provided [RCV003678653] Chr8:107264364 [GRCh38]
Chr8:108276592 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.575+5_575+7del deletion not provided [RCV003737531] Chr8:107336143..107336145 [GRCh38]
Chr8:108348371..108348373 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.808+20T>A single nucleotide variant not provided [RCV003682572] Chr8:107321876 [GRCh38]
Chr8:108334104 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.928C>G (p.Pro310Ala) single nucleotide variant not provided [RCV003706156] Chr8:107303248 [GRCh38]
Chr8:108315476 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1388C>A (p.Thr463Asn) single nucleotide variant not provided [RCV003670538] Chr8:107251964 [GRCh38]
Chr8:108264192 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1391C>T (p.Ala464Val) single nucleotide variant not provided [RCV003735718] Chr8:107251961 [GRCh38]
Chr8:108264189 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.117G>A (p.Gly39=) single nucleotide variant not provided [RCV003862797] Chr8:107497442 [GRCh38]
Chr8:108509670 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.833A>C (p.Glu278Ala) single nucleotide variant not provided [RCV003682918] Chr8:107303343 [GRCh38]
Chr8:108315571 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1103A>C (p.Gln368Pro) single nucleotide variant not provided [RCV003542915] Chr8:107284784 [GRCh38]
Chr8:108297012 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.89G>T (p.Gly30Val) single nucleotide variant not provided [RCV003568239] Chr8:107497470 [GRCh38]
Chr8:108509698 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.796A>G (p.Thr266Ala) single nucleotide variant ANGPT1-related disorder [RCV003982783] Chr8:107321908 [GRCh38]
Chr8:108334136 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.490C>T (p.Leu164=) single nucleotide variant ANGPT1-related disorder [RCV003894092] Chr8:107336235 [GRCh38]
Chr8:108348463 [GRCh37]
Chr8:8q23.1		 likely benign
NC_000008.10:g.(?_108509470)_(108509786_?)dup duplication not provided [RCV004583321] Chr8:108509470..108509786 [GRCh37]
Chr8:8q23.1		 uncertain significance
NC_000008.10:g.(?_108262669)_(109096029_?)dup duplication not provided [RCV004583320] Chr8:108262669..109096029 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.434T>C (p.Leu145Pro) single nucleotide variant ANGPT1-related disorder [RCV004732018] Chr8:107346961 [GRCh38]
Chr8:108359189 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.182A>G (p.Gln61Arg) single nucleotide variant not provided [RCV005068119] Chr8:107497377 [GRCh38]
Chr8:108509605 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.785T>C (p.Val262Ala) single nucleotide variant not provided [RCV005196100] Chr8:107321919 [GRCh38]
Chr8:108334147 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.323T>G (p.Met108Arg) single nucleotide variant not provided [RCV005064387] Chr8:107347072 [GRCh38]
Chr8:108359300 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.228G>T (p.Pro76=) single nucleotide variant not provided [RCV005086178] Chr8:107497331 [GRCh38]
Chr8:108509559 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1219G>A (p.Gly407Ser) single nucleotide variant not provided [RCV005195421] Chr8:107264338 [GRCh38]
Chr8:108276566 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.127T>C (p.Tyr43His) single nucleotide variant not provided [RCV005085070] Chr8:107497432 [GRCh38]
Chr8:108509660 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1117C>G (p.Leu373Val) single nucleotide variant not provided [RCV005139281] Chr8:107284770 [GRCh38]
Chr8:108296998 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.632C>T (p.Thr211Ile) single nucleotide variant not provided [RCV005072668] Chr8:107322072 [GRCh38]
Chr8:108334300 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1193A>G (p.Lys398Arg) single nucleotide variant not provided [RCV005152642] Chr8:107284694 [GRCh38]
Chr8:108296922 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.430_431del (p.Lys144fs) deletion not provided [RCV005158230] Chr8:107346964..107346965 [GRCh38]
Chr8:108359192..108359193 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.429A>C (p.Arg143Ser) single nucleotide variant not provided [RCV005158232] Chr8:107346966 [GRCh38]
Chr8:108359194 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.546T>A (p.Asn182Lys) single nucleotide variant not provided [RCV005155380] Chr8:107336179 [GRCh38]
Chr8:108348407 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1270G>A (p.Asp424Asn) single nucleotide variant not provided [RCV005074005] Chr8:107264287 [GRCh38]
Chr8:108276515 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.788A>G (p.Asn263Ser) single nucleotide variant not provided [RCV005154817] Chr8:107321916 [GRCh38]
Chr8:108334144 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1039-16C>G single nucleotide variant not provided [RCV005138089] Chr8:107284864 [GRCh38]
Chr8:108297092 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1038+16T>A single nucleotide variant not provided [RCV005123193] Chr8:107293920 [GRCh38]
Chr8:108306148 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1124T>A (p.Ile375Asn) single nucleotide variant not provided [RCV005135895] Chr8:107284763 [GRCh38]
Chr8:108296991 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.936+14T>A single nucleotide variant not provided [RCV005161487] Chr8:107303226 [GRCh38]
Chr8:108315454 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1124T>C (p.Ile375Thr) single nucleotide variant not provided [RCV005164371] Chr8:107284763 [GRCh38]
Chr8:108296991 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.893G>A (p.Gly298Glu) single nucleotide variant not provided [RCV005151944] Chr8:107303283 [GRCh38]
Chr8:108315511 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.627G>A (p.Leu209=) single nucleotide variant not provided [RCV005152314] Chr8:107322077 [GRCh38]
Chr8:108334305 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.381G>C (p.Met127Ile) single nucleotide variant not provided [RCV005150461] Chr8:107347014 [GRCh38]
Chr8:108359242 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.575+10G>T single nucleotide variant not provided [RCV005204199] Chr8:107336140 [GRCh38]
Chr8:108348368 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.626T>C (p.Leu209Ser) single nucleotide variant not provided [RCV005204908] Chr8:107322078 [GRCh38]
Chr8:108334306 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.808+7A>T single nucleotide variant not provided [RCV005162032] Chr8:107321889 [GRCh38]
Chr8:108334117 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.349C>A (p.Gln117Lys) single nucleotide variant not provided [RCV005084314] Chr8:107347046 [GRCh38]
Chr8:108359274 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1278C>T (p.Ser426=) single nucleotide variant not provided [RCV005208095] Chr8:107264279 [GRCh38]
Chr8:108276507 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1104G>C (p.Gln368His) single nucleotide variant not provided [RCV005207914] Chr8:107284783 [GRCh38]
Chr8:108297011 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.130A>T (p.Thr44Ser) single nucleotide variant not provided [RCV005120898] Chr8:107497429 [GRCh38]
Chr8:108509657 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.203A>C (p.Gln68Pro) single nucleotide variant not provided [RCV005111046] Chr8:107497356 [GRCh38]
Chr8:108509584 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.363G>C (p.Gln121His) single nucleotide variant not provided [RCV005180303] Chr8:107347032 [GRCh38]
Chr8:108359260 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.454-13C>G single nucleotide variant not provided [RCV005180725] Chr8:107336284 [GRCh38]
Chr8:108348512 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1400A>T (p.Asn467Ile) single nucleotide variant not provided [RCV005080559] Chr8:107251952 [GRCh38]
Chr8:108264180 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.874G>A (p.Ala292Thr) single nucleotide variant not provided [RCV005082270] Chr8:107303302 [GRCh38]
Chr8:108315530 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.808+1G>A single nucleotide variant not provided [RCV005123551] Chr8:107321895 [GRCh38]
Chr8:108334123 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.654C>T (p.Asn218=) single nucleotide variant not provided [RCV005123824] Chr8:107322050 [GRCh38]
Chr8:108334278 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.1337-14A>G single nucleotide variant not provided [RCV005125364] Chr8:107252029 [GRCh38]
Chr8:108264257 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.453+12G>A single nucleotide variant not provided [RCV005071774] Chr8:107346930 [GRCh38]
Chr8:108359158 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.858_859del (p.Ala287fs) microsatellite not provided [RCV005126847] Chr8:107303317..107303318 [GRCh38]
Chr8:108315545..108315546 [GRCh37]
Chr8:8q23.1		 uncertain significance
NM_001146.5(ANGPT1):c.1038+17T>C single nucleotide variant not provided [RCV005153725] Chr8:107293919 [GRCh38]
Chr8:108306147 [GRCh37]
Chr8:8q23.1		 likely benign
NM_001146.5(ANGPT1):c.828A>T (p.Lys276Asn) single nucleotide variant not provided [RCV005152501] Chr8:107303348 [GRCh38]
Chr8:108315576 [GRCh37]
Chr8:8q23.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2973
Count of miRNA genes:793
Interacting mature miRNAs:929
Transcripts:ENST00000297450, ENST00000517746, ENST00000518386, ENST00000520033, ENST00000520052, ENST00000520734, ENST00000521950, ENST00000522400
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
597045141GWAS1141215_HAbnormality of refraction QTL GWAS1141215 (human)3e-08Abnormality of refraction8107302743107302744Human
597098261GWAS1194335_Hprotein measurement QTL GWAS1194335 (human)2e-08protein measurement8107464869107464870Human
597022864GWAS1118938_Hcolorectal health QTL GWAS1118938 (human)0.000004colorectal integrity trait (VT:0010901)8107272682107272683Human
597067024GWAS1163098_Hsusceptibility to common cold measurement QTL GWAS1163098 (human)0.000003response to viral infection trait (VT:0010439)8107375197107375198Human
406966217GWAS615193_Hnitric oxide exhalation measurement QTL GWAS615193 (human)0.000003nitric oxide exhalation measurement8107365673107365674Human
597340435GWAS1436509_Hopen-angle glaucoma QTL GWAS1436509 (human)4e-10open-angle glaucoma8107496243107496244Human
597110554GWAS1206628_HAntiglaucoma preparations and miotics use measurement QTL GWAS1206628 (human)2e-09Antiglaucoma preparations and miotics use measurement8107262455107262456Human
597205782GWAS1301856_Hopen-angle glaucoma QTL GWAS1301856 (human)6e-16open-angle glaucoma8107261090107261091Human
597073689GWAS1169763_Hintraocular pressure measurement QTL GWAS1169763 (human)2e-10intraocular pressure measurement8107278644107278645Human
597159814GWAS1255888_H4-vinylphenol sulfate measurement QTL GWAS1255888 (human)0.0000024-vinylphenol sulfate measurement8107327383107327384Human
597112454GWAS1208528_Hprotein measurement QTL GWAS1208528 (human)1e-08protein measurement8107464869107464870Human
597062274GWAS1158348_Hbody mass index QTL GWAS1158348 (human)0.000007body mass indexbody mass index (BMI) (CMO:0000105)8107274554107274555Human
597114114GWAS1210188_Herythrocyte count QTL GWAS1210188 (human)5e-09erythrocyte countred blood cell count (CMO:0000025)8107409719107409720Human
597212302GWAS1308376_Hintraocular pressure measurement QTL GWAS1308376 (human)1e-13intraocular pressure measurement8107281490107281491Human
597212303GWAS1308377_Hintraocular pressure measurement QTL GWAS1308377 (human)2e-17intraocular pressure measurement8107422472107422473Human
406993368GWAS642344_Hreticulocyte measurement QTL GWAS642344 (human)5e-15reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)8107388432107388433Human
597238535GWAS1334609_Hblood protein measurement QTL GWAS1334609 (human)2e-14blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)8107321934107321935Human
597107849GWAS1203923_Hreticulocyte measurement QTL GWAS1203923 (human)5e-11reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)8107409719107409720Human
597303866GWAS1399940_Hmean corpuscular hemoglobin QTL GWAS1399940 (human)2e-10mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)8107388432107388433Human
597268027GWAS1364101_Haortic measurement QTL GWAS1364101 (human)3e-12aortic measurementaorta measurement (CMO:0001474)8107281852107281853Human
597314617GWAS1410691_Hcortical thickness QTL GWAS1410691 (human)8e-24cortical thickness8107381731107381732Human
597211708GWAS1307782_Hglaucoma QTL GWAS1307782 (human)5e-12glaucoma8107266388107266389Human
597245245GWAS1341319_Hglaucoma QTL GWAS1341319 (human)3e-08glaucoma8107271760107271761Human
597045552GWAS1141626_Hintraocular pressure measurement QTL GWAS1141626 (human)9e-13intraocular pressure measurement8107443841107443842Human
597116223GWAS1212297_Hintraocular pressure measurement QTL GWAS1212297 (human)2e-31intraocular pressure measurement8107276121107276122Human
597268144GWAS1364218_Haortic measurement QTL GWAS1364218 (human)2e-12aortic measurementaorta measurement (CMO:0001474)8107281852107281853Human
597035709GWAS1131783_Hintraocular pressure measurement QTL GWAS1131783 (human)9e-11intraocular pressure measurement8107429303107429304Human
597259316GWAS1355390_Haortic measurement QTL GWAS1355390 (human)4e-12aortic measurementaorta measurement (CMO:0001474)8107281852107281853Human
597083961GWAS1180035_Hwhite matter hyperintensity measurement QTL GWAS1180035 (human)0.000002white matter hyperintensity measurement8107404211107404212Human
597204136GWAS1300210_Hopen-angle glaucoma QTL GWAS1300210 (human)3e-10open-angle glaucoma8107264902107264903Human
596955812GWAS1075331_Hintraocular pressure measurement QTL GWAS1075331 (human)3e-15intraocular pressure measurement8107343233107343234Human
597320489GWAS1416563_Hdiastolic blood pressure, systolic blood pressure QTL GWAS1416563 (human)5e-08diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)8107302743107302744Human
597045538GWAS1141612_Hintraocular pressure measurement QTL GWAS1141612 (human)2e-11intraocular pressure measurement8107302743107302744Human
597312943GWAS1409017_HAntiglaucoma preparations and miotics use measurement QTL GWAS1409017 (human)2e-11Antiglaucoma preparations and miotics use measurement8107263629107263630Human
597045539GWAS1141613_Hintraocular pressure measurement QTL GWAS1141613 (human)1e-15intraocular pressure measurement8107461066107461067Human
407027061GWAS676037_Hserum IgG glycosylation measurement QTL GWAS676037 (human)0.000003serum IgG glycosylation measurement8107269199107269200Human
597205026GWAS1301100_Hopen-angle glaucoma QTL GWAS1301100 (human)2e-08open-angle glaucoma8107302743107302744Human
597342500GWAS1438574_Hopen-angle glaucoma QTL GWAS1438574 (human)1e-12open-angle glaucoma8107264902107264903Human
597090088GWAS1186162_Hmean reticulocyte volume QTL GWAS1186162 (human)3e-22reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)8107409719107409720Human
597049000GWAS1145074_Hintraocular pressure measurement QTL GWAS1145074 (human)3e-18intraocular pressure measurement8107422472107422473Human
597136855GWAS1232929_Hdiastolic blood pressure, systolic blood pressure QTL GWAS1232929 (human)0.0000009diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)8107302743107302744Human
597085142GWAS1181216_Hmean corpuscular hemoglobin QTL GWAS1181216 (human)9e-11mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)8107409719107409720Human
406974211GWAS623187_Hreticulocyte count QTL GWAS623187 (human)8e-11reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)8107381731107381732Human
597211484GWAS1307558_Hglaucoma QTL GWAS1307558 (human)0.000008glaucoma8107281490107281491Human
597138643GWAS1234717_Hresponse to opioid QTL GWAS1234717 (human)4e-11response to opioid8107421459107421460Human
597103071GWAS1199145_Hplatelet component distribution width QTL GWAS1199145 (human)1e-10platelet size trait (VT:0010457)platelet distribution width (CMO:0001350)8107409719107409720Human
597165780GWAS1261854_Hopen-angle glaucoma QTL GWAS1261854 (human)2e-39open-angle glaucoma8107255687107255688Human
597258965GWAS1355039_Haortic measurement QTL GWAS1355039 (human)3e-12aortic measurementaorta measurement (CMO:0001474)8107351368107351369Human
597305174GWAS1401248_Herythrocyte count QTL GWAS1401248 (human)2e-08erythrocyte countred blood cell count (CMO:0000025)8107388595107388596Human
597165781GWAS1261855_Hopen-angle glaucoma QTL GWAS1261855 (human)2e-09open-angle glaucoma8107312836107312837Human
597165782GWAS1261856_Hopen-angle glaucoma QTL GWAS1261856 (human)8e-10open-angle glaucoma8107404211107404212Human
597621070GWAS1677930_Hopen-angle glaucoma QTL GWAS1677930 (human)3e-15open-angle glaucoma8107285653107285654Human
597205065GWAS1301139_Hopen-angle glaucoma QTL GWAS1301139 (human)4e-09open-angle glaucoma8107256851107256852Human
597178571GWAS1274645_HQRS-T angle QTL GWAS1274645 (human)3e-08heart excitatory physiology trait (VT:0000231)8107352829107352830Human
407123088GWAS772064_Hmean corpuscular hemoglobin QTL GWAS772064 (human)9e-15mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)8107405173107405174Human
597116226GWAS1212300_Hintraocular pressure measurement QTL GWAS1212300 (human)9e-31intraocular pressure measurement8107276524107276525Human
597428804GWAS1524878_Hprotein measurement QTL GWAS1524878 (human)2e-12protein measurement8107287273107287274Human
597157071GWAS1253145_Hopen-angle glaucoma QTL GWAS1253145 (human)5e-09open-angle glaucoma8107386374107386375Human
597259201GWAS1355275_Haortic measurement QTL GWAS1355275 (human)4e-09aortic measurementaorta measurement (CMO:0001474)8107496472107496473Human
406967453GWAS616429_Hreticulocyte count QTL GWAS616429 (human)2e-09reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)8107388432107388433Human
597059275GWAS1155349_Hopen-angle glaucoma QTL GWAS1155349 (human)7e-12open-angle glaucoma8107263553107263554Human
597025483GWAS1121557_Hblood protein measurement QTL GWAS1121557 (human)2e-09blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)8107339931107339932Human
597048822GWAS1144896_Herythrocyte count QTL GWAS1144896 (human)1e-12erythrocyte countred blood cell count (CMO:0000025)8107388883107388884Human
406951712GWAS600688_Hwellbeing measurement QTL GWAS600688 (human)0.000008wellness/fitness trait (VT:1000152)8107420976107420977Human
597139444GWAS1235518_Hneuroimaging measurement QTL GWAS1235518 (human)6e-17neuroimaging measurement8107381731107381732Human
597292668GWAS1388742_Hintraocular pressure measurement QTL GWAS1388742 (human)3e-15intraocular pressure measurement8107343233107343234Human
406985127GWAS634103_Hreticulocyte count QTL GWAS634103 (human)7e-12reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)8107388432107388433Human
406995497GWAS644473_Hmean corpuscular hemoglobin concentration QTL GWAS644473 (human)2e-13mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)8107404777107404778Human
597132537GWAS1228611_Hpulse pressure measurement QTL GWAS1228611 (human)2e-08pulse pressure measurementpulse pressure (CMO:0000292)8107307167107307168Human
596952676GWAS1072195_Hage of onset of Parkinson disease, smoking behaviour measurement QTL GWAS1072195 (human)0.0000007age of onset of Parkinson disease, smoking behaviour measurement8107319619107319620Human
597067748GWAS1163822_HCorneal astigmatism QTL GWAS1163822 (human)0.000007Corneal astigmatism8107305387107305388Human
597122402GWAS1218476_Hperiodontitis QTL GWAS1218476 (human)0.000004periodontitis8107428149107428150Human
597048942GWAS1145016_Hintraocular pressure measurement QTL GWAS1145016 (human)4e-14intraocular pressure measurement8107328754107328755Human
406993467GWAS642443_Hmean corpuscular hemoglobin concentration QTL GWAS642443 (human)3e-11mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)8107404777107404778Human
597203554GWAS1299628_Hopen-angle glaucoma QTL GWAS1299628 (human)7e-11open-angle glaucoma8107271760107271761Human
597106025GWAS1202099_Hcerebral white matter volume change measurement, age at assessment QTL GWAS1202099 (human)0.000005cerebral white matter volume change measurement, age at assessment8107385132107385133Human

Markers in Region
D8S383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378108,382,324 - 108,382,667UniSTSGRCh37
Build 368108,451,500 - 108,451,843RGDNCBI36
Celera8104,568,604 - 104,568,938RGD
HuRef8103,702,306 - 103,702,617UniSTS
Marshfield Genetic Map8120.29RGD
Marshfield Genetic Map8120.29UniSTS
RH17369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378108,261,947 - 108,262,188UniSTSGRCh37
Build 368108,331,123 - 108,331,364RGDNCBI36
Celera8104,448,750 - 104,448,991RGD
Cytogenetic Map8q23.1UniSTS
HuRef8103,582,050 - 103,582,291UniSTS
GeneMap99-GB4 RH Map8445.99UniSTS
RH121046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378108,299,137 - 108,299,427UniSTSGRCh37
Build 368108,368,313 - 108,368,603RGDNCBI36
Celera8104,485,939 - 104,486,229RGD
Cytogenetic Map8q23.1UniSTS
HuRef8103,619,242 - 103,619,532UniSTS
TNG Radiation Hybrid Map852917.0UniSTS
RH25244  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378108,262,363 - 108,262,499UniSTSGRCh37
Build 368108,331,539 - 108,331,675RGDNCBI36
Celera8104,449,166 - 104,449,302RGD
Cytogenetic Map8q23.1UniSTS
HuRef8103,582,466 - 103,582,602UniSTS
GeneMap99-GB4 RH Map8445.99UniSTS
ANGPT1__4215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378108,261,602 - 108,262,409UniSTSGRCh37
Build 368108,330,778 - 108,331,585RGDNCBI36
Celera8104,448,405 - 104,449,212RGD
HuRef8103,581,705 - 103,582,512UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
Angpt1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378108,509,734 - 108,509,918UniSTSGRCh37
Celera8104,696,004 - 104,696,188UniSTS
HuRef8103,829,658 - 103,829,842UniSTS


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 2391 2788 2235 4955 1718 2304 5 617 1457 459 2263 6766 5983 50 3721 1 835 1719 1575 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001314051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB084454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL700429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW069541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY055342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY121504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY124380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX867178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D13628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U83508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000297450   ⟹   ENSP00000297450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8107,249,493 - 107,498,055 (-)Ensembl
Ensembl Acc Id: ENST00000517746   ⟹   ENSP00000428340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8107,249,482 - 107,497,918 (-)Ensembl
Ensembl Acc Id: ENST00000518386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8107,251,527 - 107,321,989 (-)Ensembl
Ensembl Acc Id: ENST00000520033   ⟹   ENSP00000428908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8107,346,983 - 107,494,995 (-)Ensembl
Ensembl Acc Id: ENST00000520052   ⟹   ENSP00000429349
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8107,251,512 - 107,336,522 (-)Ensembl
Ensembl Acc Id: ENST00000520734   ⟹   ENSP00000430750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8107,251,512 - 107,336,522 (-)Ensembl
Ensembl Acc Id: ENST00000521950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8107,283,997 - 107,321,993 (-)Ensembl
Ensembl Acc Id: ENST00000522400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8107,284,519 - 107,295,541 (-)Ensembl
RefSeq Acc Id: NM_001146   ⟹   NP_001137
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388107,249,482 - 107,497,918 (-)NCBI
GRCh378108,261,710 - 108,510,254 (-)ENTREZGENE
GRCh378108,261,710 - 108,510,254 (-)NCBI
Build 368108,330,886 - 108,579,430 (-)NCBI Archive
HuRef8103,581,813 - 103,830,178 (-)ENTREZGENE
CHM1_18108,301,960 - 108,550,536 (-)NCBI
T2T-CHM13v2.08108,377,097 - 108,625,564 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001199859   ⟹   NP_001186788
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388107,249,482 - 107,497,918 (-)NCBI
GRCh378108,261,710 - 108,510,254 (-)NCBI
HuRef8103,581,813 - 103,830,178 (-)ENTREZGENE
CHM1_18108,301,960 - 108,550,536 (-)NCBI
T2T-CHM13v2.08108,377,097 - 108,625,564 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001314051   ⟹   NP_001300980
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388107,249,482 - 107,336,522 (-)NCBI
CHM1_18108,301,960 - 108,388,937 (-)NCBI
T2T-CHM13v2.08108,377,097 - 108,464,081 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047421699   ⟹   XP_047277655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388107,264,225 - 107,497,918 (-)NCBI
RefSeq Acc Id: XM_054360302   ⟹   XP_054216277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08108,391,841 - 108,625,564 (-)NCBI
RefSeq Acc Id: NP_001186788   ⟸   NM_001199859
- Peptide Label: isoform 2 precursor
- UniProtKB: B4E3G9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001137   ⟸   NM_001146
- Peptide Label: isoform 1 precursor
- UniProtKB: Q5HYA0 (UniProtKB/Swiss-Prot),   Q15389 (UniProtKB/Swiss-Prot),   B4E3G9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001300980   ⟸   NM_001314051
- Peptide Label: isoform 3
- UniProtKB: B4DTQ9 (UniProtKB/TrEMBL),   E7ERK4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000428340   ⟸   ENST00000517746
Ensembl Acc Id: ENSP00000297450   ⟸   ENST00000297450
Ensembl Acc Id: ENSP00000428908   ⟸   ENST00000520033
Ensembl Acc Id: ENSP00000429349   ⟸   ENST00000520052
Ensembl Acc Id: ENSP00000430750   ⟸   ENST00000520734
RefSeq Acc Id: XP_047277655   ⟸   XM_047421699
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216277   ⟸   XM_054360302
- Peptide Label: isoform X1
Protein Domains
Fibrinogen C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15389-F1-model_v2 AlphaFold Q15389 1-498 view protein structure

Promoters
RGD ID:7213981
Promoter ID:EPDNEW_H12735
Type:initiation region
Name:ANGPT1_2
Description:angiopoietin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12736  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388107,321,993 - 107,322,053EPDNEW
RGD ID:7213979
Promoter ID:EPDNEW_H12736
Type:initiation region
Name:ANGPT1_1
Description:angiopoietin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12735  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388107,497,918 - 107,497,978EPDNEW
RGD ID:6806488
Promoter ID:HG_KWN:61910
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000297450,   UC003YMO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368108,578,686 - 108,579,337 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:484 AgrOrtholog
COSMIC ANGPT1 COSMIC
Ensembl Genes ENSG00000154188 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000297450 ENTREZGENE
  ENST00000297450.7 UniProtKB/Swiss-Prot
  ENST00000517746 ENTREZGENE
  ENST00000517746.6 UniProtKB/Swiss-Prot
  ENST00000520734 ENTREZGENE
Gene3D-CATH 3.90.215.10 UniProtKB/Swiss-Prot
  Gamma-fibrinogen Carboxyl Terminal Fragment, domain 2 UniProtKB/Swiss-Prot
GTEx ENSG00000154188 GTEx
HGNC ID HGNC:484 ENTREZGENE
Human Proteome Map ANGPT1 Human Proteome Map
InterPro FIB_ANG-like UniProtKB/Swiss-Prot
  Fibrinogen-like_C UniProtKB/Swiss-Prot
  Fibrinogen_a/b/g_C_1 UniProtKB/Swiss-Prot
  Fibrinogen_a/b/g_C_dom UniProtKB/Swiss-Prot
  Fibrinogen_CS UniProtKB/Swiss-Prot
KEGG Report hsa:284 UniProtKB/Swiss-Prot
NCBI Gene 284 ENTREZGENE
OMIM 601667 OMIM
PANTHER FIBRINOGEN ALPHA CHAIN UniProtKB/Swiss-Prot
  FIBRINOGEN ALPHA CHAIN UniProtKB/Swiss-Prot
Pfam Fibrinogen_C UniProtKB/Swiss-Prot
PharmGKB PA24791 PharmGKB
PROSITE FIBRINOGEN_C_1 UniProtKB/Swiss-Prot
  FIBRINOGEN_C_2 UniProtKB/Swiss-Prot
SMART FBG UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56496 UniProtKB/Swiss-Prot
UniProt ANGP1_HUMAN UniProtKB/Swiss-Prot
  B4DTQ9 ENTREZGENE, UniProtKB/TrEMBL
  B4E3G9 ENTREZGENE, UniProtKB/TrEMBL
  E5RFF4_HUMAN UniProtKB/TrEMBL
  E7ERK4 ENTREZGENE, UniProtKB/TrEMBL
  Q15389 ENTREZGENE
  Q5HYA0 ENTREZGENE
UniProt Secondary Q5HYA0 UniProtKB/Swiss-Prot