STAT4 (signal transducer and activator of transcription 4) - Rat Genome Database

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Gene: STAT4 (signal transducer and activator of transcription 4) Homo sapiens
Analyze
Symbol: STAT4
Name: signal transducer and activator of transcription 4
RGD ID: 1313964
HGNC Page HGNC:11365
Description: Enables DNA-binding transcription factor activity and identical protein binding activity. Involved in T-helper 1 cell differentiation; interleukin-12-mediated signaling pathway; and response to interleukin-6. Part of RNA polymerase II transcription regulator complex. Is active in nucleus. Implicated in several diseases, including IgA glomerulonephritis; autoimmune disease (multiple); gastrointestinal system cancer (multiple); genital herpes; and scleroderma (multiple). Biomarker of Sezary's disease; cholesteatoma; and viral hepatitis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DPMC; signal transducer and activator of transcription 4 variant 3; SLEB11
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
GRCh382191,029,576 - 191,151,596 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2191,029,576 - 191,178,435 (-)EnsemblGRCh38hg38GRCh38
GRCh372191,894,302 - 192,016,322 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362191,602,551 - 191,724,170 (-)NCBINCBI36Build 36hg18NCBI36
Build 342191,719,811 - 191,841,431NCBI
Celera2185,488,908 - 185,610,548 (-)NCBICelera
Cytogenetic Map2q32.2-q32.3NCBI
HuRef2183,753,956 - 183,875,743 (-)NCBIHuRef
CHM1_12191,900,128 - 192,022,113 (-)NCBICHM1_1
T2T-CHM13v2.02191,518,699 - 191,663,236 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-amphetamine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
6alpha-methylprednisolone  (EXP)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
aconitine  (ISO)
acrylamide  (ISO)
ammonium chloride  (ISO)
antigen  (ISO)
antimycin A  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
azoxystrobin  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
chlorophyllin  (ISO)
choline  (ISO)
cisplatin  (EXP)
crocidolite asbestos  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP)
cypermethrin  (ISO)
deguelin  (EXP)
deoxynivalenol  (ISO)
diarsenic trioxide  (EXP)
diclofenac  (EXP)
disodium selenite  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
eugenol  (EXP)
folic acid  (ISO)
genistein  (ISO)
gentamycin  (ISO)
L-methionine  (ISO)
leptomycin B  (EXP)
lipopolysaccharide  (EXP,ISO)
maneb  (ISO)
melatonin  (ISO)
methotrexate  (EXP)
N-methyl-N-nitrosourea  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
ochratoxin A  (ISO)
ozone  (ISO)
paracetamol  (EXP)
paraquat  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenytoin  (EXP)
picoxystrobin  (EXP)
piroxicam  (EXP)
prednisolone  (EXP)
propanal  (EXP)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
cytoplasm  (IBA,IEA)
cytosol  (TAS)
nuclear body  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IDA,IEA,IMP)
RNA polymerase II transcription regulator complex  (IBA,IPI,NAS)

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

Human Phenotype
AA amyloidosis  (IAGP)
Abdominal distention  (IAGP)
Abdominal pain  (IAGP)
Abnormal blistering of the skin  (IAGP)
Abnormal circulating interleukin concentration  (IAGP)
Abnormal hip joint morphology  (IAGP)
Abnormal metacarpophalangeal joint morphology  (IAGP)
Abnormal metatarsal morphology  (IAGP)
Abnormal myocardium morphology  (IAGP)
Abnormal pigmentation of the oral mucosa  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal shoulder morphology  (IAGP)
Abnormality of salivation  (IAGP)
Abnormality of the ankle  (IAGP)
Abnormality of the cervical spine  (IAGP)
Abnormality of the gastrointestinal tract  (IAGP)
Abnormality of the hand  (IAGP)
Abnormality of the immune system  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the nervous system  (IAGP)
Abnormality of the respiratory system  (IAGP)
Abnormality of the skin  (IAGP)
Abnormality of the temporomandibular joint  (IAGP)
Abnormality of the urinary system  (IAGP)
Abnormality of the wrist  (IAGP)
Acne  (IAGP)
Alopecia  (IAGP)
Anemia  (IAGP)
Ankle swelling  (IAGP)
Anorexia  (IAGP)
Anterior chamber synechiae  (IAGP)
Anti-centromere antibody positivity  (IAGP)
Anti-complement component C1q antibody positivity  (IAGP)
Anti-dsDNA antibody positivity  (IAGP)
Anti-La/SS-B antibody positivity  (IAGP)
Anti-mitochondrial M2 antibody positivity  (IAGP)
Anti-nucleoporin 62 antibody positivity  (IAGP)
Anti-phosphatidic acid antibody positivity  (IAGP)
Anti-ribosome Po antibody positivity  (IAGP)
Anti-Ro52/TRIM21 antibody positivity  (IAGP)
Anti-Sm antibody positivity  (IAGP)
Anti-titin antibody positivity  (IAGP)
Anti-topoisomerase I antibody positivity  (IAGP)
Anti-U1 ribonucleoprotein antibody positivity  (IAGP)
Antineutrophil antibody positivity  (IAGP)
Antinuclear antibody positivity  (IAGP)
Antiphospholipid antibody positivity  (IAGP)
Aortic regurgitation  (IAGP)
Arterial thrombosis  (IAGP)
Arthralgia  (IAGP)
Arthritis  (IAGP)
Ascites  (IAGP)
Ataxia  (IAGP)
Atypical behavior  (IAGP)
Autoimmunity  (IAGP)
Autosomal dominant inheritance  (IAGP)
Avascular necrosis  (IAGP)
Band keratopathy  (IAGP)
Biliary cirrhosis  (IAGP)
Blindness  (IAGP)
Cataract  (IAGP)
Cerebral ischemia  (IAGP)
Cheilitis  (IAGP)
Chest pain  (IAGP)
Childhood onset  (IAGP)
Cholestasis  (IAGP)
Chorea  (IAGP)
Cognitive impairment  (IAGP)
Confusion  (IAGP)
Cranial nerve paralysis  (IAGP)
Crohn's disease  (IAGP)
Cutaneous photosensitivity  (IAGP)
Dark urine  (IAGP)
Decreased circulating complement C3 concentration  (IAGP)
Decreased circulating complement C4 concentration  (IAGP)
Depression  (IAGP)
Developmental regression  (IAGP)
Diarrhea  (IAGP)
Discoid lupus rash  (IAGP)
Dyspnea  (IAGP)
Edema  (IAGP)
Elevated circulating alanine aminotransferase concentration  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated circulating aspartate aminotransferase concentration  (IAGP)
Elevated circulating C-reactive protein concentration  (IAGP)
Elevated erythrocyte sedimentation rate  (IAGP)
Endocarditis  (IAGP)
Enthesitis  (IAGP)
Epididymitis  (IAGP)
Erythema nodosum  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Flexion contracture  (IAGP)
Gait disturbance  (IAGP)
Gangrene  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Genital ulcers  (IAGP)
Glaucoma  (IAGP)
Glomerulonephritis  (IAGP)
Glomerulopathy  (IAGP)
Headache  (IAGP)
Hematuria  (IAGP)
Hemiparesis  (IAGP)
Hemiplegia  (IAGP)
Hemolytic anemia  (IAGP)
Hemoptysis  (IAGP)
Hepatosplenomegaly  (IAGP)
Hip osteoarthritis  (IAGP)
Hyperreflexia  (IAGP)
Hypertension  (IAGP)
Immunologic hypersensitivity  (IAGP)
Increased circulating IgG concentration  (IAGP)
Increased circulating interferon-gamma concentration  (IAGP)
Increased circulating lactate dehydrogenase concentration  (IAGP)
Increased hepatitis B virus antibody level  (IAGP)
Increased inflammatory response  (IAGP)
Increased intracranial pressure  (IAGP)
Increased total bilirubin  (IAGP)
Infectious encephalitis  (IAGP)
Iridocyclitis  (IAGP)
Irritability  (IAGP)
Joint contracture  (IAGP)
Joint hypermobility  (IAGP)
Joint stiffness  (IAGP)
Joint swelling  (IAGP)
Keratoconjunctivitis sicca  (IAGP)
Knee osteoarthritis  (IAGP)
Language impairment  (IAGP)
Leukopenia  (IAGP)
Low-grade fever  (IAGP)
Lupus anticoagulant  (IAGP)
Lupus nephritis  (IAGP)
Lymphadenopathy  (IAGP)
Lymphopenia  (IAGP)
Malabsorption  (IAGP)
Malaise  (IAGP)
Malar rash  (IAGP)
Memory impairment  (IAGP)
Meningitis  (IAGP)
Microangiopathic hemolytic anemia  (IAGP)
Migraine  (IAGP)
Mild postnatal growth retardation  (IAGP)
Mitral regurgitation  (IAGP)
Morphea  (IAGP)
Muscle weakness  (IAGP)
Myalgia  (IAGP)
Myocardial infarction  (IAGP)
Myocarditis  (IAGP)
Myositis  (IAGP)
Nausea and vomiting  (IAGP)
Neoplasm of the liver  (IAGP)
Neoplasm of the rectum  (IAGP)
Nephritis  (IAGP)
Nephrotic syndrome  (IAGP)
Neutropenia  (IAGP)
Non-infectious meningitis  (IAGP)
Nongranulomatous uveitis  (IAGP)
Oligoarthritis  (IAGP)
Optic neuritis  (IAGP)
Oral ulcer  (IAGP)
Orchitis  (IAGP)
Pancreatitis  (IAGP)
Panuveitis  (IAGP)
Papule  (IAGP)
Paresthesia  (IAGP)
Pericardial effusion  (IAGP)
Pericarditis  (IAGP)
Photophobia  (IAGP)
Pleural effusion  (IAGP)
Pleuritis  (IAGP)
Polyarticular arthritis  (IAGP)
Positive pathergy test  (IAGP)
Proteinuria  (IAGP)
Psoriasiform dermatitis  (IAGP)
Psychosis  (IAGP)
Pulmonary embolism  (IAGP)
Pulmonary fibrosis  (IAGP)
Pulmonary infiltrates  (IAGP)
Pustule  (IAGP)
Pyuria  (IAGP)
Raynaud phenomenon  (IAGP)
Recurrent aphthous stomatitis  (IAGP)
Recurrent fever  (IAGP)
Recurrent infections  (IAGP)
Reduced consciousness  (IAGP)
Reduced visual acuity  (IAGP)
Renal insufficiency  (IAGP)
Retinopathy  (IAGP)
Retrobulbar optic neuritis  (IAGP)
Rheumatoid arthritis  (IAGP)
Sclerodactyly  (IAGP)
Scleroderma  (IAGP)
Seizure  (IAGP)
Serositis  (IAGP)
Severe postnatal growth retardation  (IAGP)
Skin rash  (IAGP)
Skin ulcer  (IAGP)
Splenomegaly  (IAGP)
Squamous cell carcinoma of the skin  (IAGP)
Subcutaneous nodule  (IAGP)
Superficial thrombophlebitis  (IAGP)
Synovial lining hyperplasia  (IAGP)
Synovitis  (IAGP)
Systemic lupus erythematosus  (IAGP)
Thrombocytopenia  (IAGP)
Uveitis  (IAGP)
Vasculitis  (IAGP)
Venous thrombosis  (IAGP)
Vertigo  (IAGP)
Viral hepatitis  (IAGP)
Visual loss  (IAGP)
Vomiting  (IAGP)
Weight loss  (IAGP)
Xerostomia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Disease susceptibility genes shared by primary biliary cirrhosis and Crohn's disease in the Japanese population. Aiba Y, etal., J Hum Genet. 2015 Sep;60(9):525-31. doi: 10.1038/jhg.2015.59. Epub 2015 Jun 18.
2. Further evidence of subphenotype association with systemic lupus erythematosus susceptibility loci: a European cases only study. Alonso-Perez E, etal., PLoS One. 2012;7(9):e45356. doi: 10.1371/journal.pone.0045356. Epub 2012 Sep 26.
3. Simvastatin treatment ameliorates autoimmune disease associated with accelerated atherosclerosis in a murine lupus model. Aprahamian T, etal., J Immunol. 2006 Sep 1;177(5):3028-34.
4. Inactivation of the transcription factor STAT-4 prevents inflammation-driven fibrosis in animal models of systemic sclerosis. Avouac J, etal., Arthritis Rheum. 2011 Mar;63(3):800-9. doi: 10.1002/art.30171.
5. Role of Stat4-mediated signal transduction events in the generation of aggressor CD4+ T cells in herpetic stromal keratitis pathogenesis. Banerjee K, etal., J Interferon Cytokine Res. 2007 Jan;27(1):65-75.
6. Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort. Bowes J, etal., Ann Rheum Dis. 2012 Aug;71(8):1350-4. doi: 10.1136/annrheumdis-2011-200802. Epub 2012 Feb 10.
7. Evidence for activation of inflammatory lipoxygenase pathways in visceral adipose tissue of obese Zucker rats. Chakrabarti SK, etal., Am J Physiol Endocrinol Metab. 2011 Jan;300(1):E175-87. Epub 2010 Oct 26.
8. Single Nucleotide Polymorphisms in STAT3 and STAT4 and Risk of Hepatocellular Carcinoma in Thai Patients with Chronic Hepatitis B. Chanthra N, etal., Asian Pac J Cancer Prev. 2015;16(18):8405-10.
9. Chronic exposure to staphylococcal superantigen elicits a systemic inflammatory disease mimicking lupus. Chowdhary VR, etal., J Immunol. 2012 Aug 15;189(4):2054-62. doi: 10.4049/jimmunol.1201097. Epub 2012 Jul 13.
10. STAT4 is a genetic risk factor for systemic sclerosis having additive effects with IRF5 on disease susceptibility and related pulmonary fibrosis. Dieude P, etal., Arthritis Rheum. 2009 Aug;60(8):2472-9. doi: 10.1002/art.24688.
11. Jak-Stat signaling pathway may play a role in the pathogenesis of cholesteatoma. Eskiizmir G, etal., Am J Otolaryngol. 2014 Mar-Apr;35(2):130-6. doi: 10.1016/j.amjoto.2013.10.005. Epub 2013 Oct 30.
12. STAT4 is a confirmed genetic risk factor for Sjogren's syndrome and could be involved in type 1 interferon pathway signaling. Gestermann N, etal., Genes Immun. 2010 Jul;11(5):432-8. doi: 10.1038/gene.2010.29. Epub 2010 Jun 10.
13. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
14. Polymorphisms in TBX21 and STAT4 increase the risk of systemic sclerosis: evidence of possible gene-gene interaction and alterations in Th1/Th2 cytokines. Gourh P, etal., Arthritis Rheum. 2009 Dec;60(12):3794-806. doi: 10.1002/art.24958.
15. Identification of immune checkpoint inhibitors and biomarkers among STAT family in stomach adenocarcinoma. Guo L, etal., Am J Transl Res. 2020 Sep 15;12(9):4977-4997. eCollection 2020.
16. Polymorphisms of signal transducers and activators of transcription 1 and 4 (STAT1 and STAT4) contribute to progression of childhood IgA nephropathy. Hahn WH, etal., Cytokine. 2010 Apr;50(1):69-74. doi: 10.1016/j.cyto.2009.12.004. Epub 2010 Jan 4.
17. Disruption of the STAT4 signaling pathway protects from autoimmune diabetes while retaining antiviral immune competence. Holz A, etal., J Immunol. 1999 Nov 15;163(10):5374-82.
18. Identification of a susceptibility locus in STAT4 for Behcet's disease in Han Chinese in a genome-wide association study. Hou S, etal., Arthritis Rheum. 2012 Dec;64(12):4104-13. doi: 10.1002/art.37708.
19. STAT4 polymorphism in a Chinese Han population with Vogt-Koyanagi-Harada syndrome and Behcet's disease. Hu K, etal., Hum Immunol. 2010 Jul;71(7):723-6. doi: 10.1016/j.humimm.2010.04.007. Epub 2010 May 14.
20. STAT expression and localization in the central nervous system during autoimmune encephalomyelitis in Lewis rats. Jee Y, etal., J Neuroimmunol. 2001 Mar 1;114(1-2):40-7.
21. STAT4 gene polymorphisms are associated with susceptibility and ANA status in primary biliary cirrhosis. Joshita S, etal., Dis Markers. 2014;2014:727393. doi: 10.1155/2014/727393. Epub 2014 Feb 4.
22. Role of STAT4 polymorphisms in systemic lupus erythematosus in a Japanese population: a case-control association study of the STAT1-STAT4 region. Kawasaki A, etal., Arthritis Res Ther. 2008;10(5):R113. doi: 10.1186/ar2516. Epub 2008 Sep 19.
23. Signaling through the JAK/STAT pathway, recent advances and future challenges. Kisseleva T, etal., Gene 2002 Feb 20;285(1-2):1-24.
24. Variant form of STAT4 is associated with primary Sjogren's syndrome. Korman BD, etal., Genes Immun. 2008 Apr;9(3):267-70. doi: 10.1038/gene.2008.1. Epub 2008 Feb 14.
25. Favored T helper 1 response in a mouse model of hepatosteatosis is associated with enhanced T cell-mediated hepatitis. Kremer M, etal., Hepatology. 2006 Jul;44(1):216-27. doi: 10.1002/hep.21221.
26. Differential requirement of signal transducer and activator of transcription-4 (Stat4) and Stat6 in a thyrotropin receptor-289-adenovirus-induced model of Graves' hyperthyroidism. Land KJ, etal., Endocrinology. 2006 Jan;147(1):111-9. Epub 2005 Sep 29.
27. [Effect of Radix Astragali on signal transducer and activator of transcription activator-4 and its mRNA expression in a rat model of asthma] Li CC, etal., Zhonghua Er Ke Za Zhi. 2007 Oct;45(10):727-31.
28. Association of STAT4 and PTPN22 polymorphisms and their interactions with type-1 autoimmune hepatitis susceptibility in Chinese Han children. Li X, etal., Oncotarget. 2017 Apr 27;8(37):60933-60940. doi: 10.18632/oncotarget.17458. eCollection 2017 Sep 22.
29. Association of HLA-DP/DQ, STAT4 and IL-28B variants with HBV viral clearance in Tibetans and Uygurs in China. Liao Y, etal., Liver Int. 2015 Mar;35(3):886-96. doi: 10.1111/liv.12643. Epub 2014 Aug 5.
30. STAT4 genetic polymorphisms association with spontaneous clearance of hepatitis B virus infection. Lu Y, etal., Immunol Res. 2015 Jun;62(2):146-52. doi: 10.1007/s12026-015-8645-1.
31. Pivotal role of signal transducer and activator of transcription (Stat)4 and Stat6 in the innate immune response during sepsis. Matsukawa A, etal., J Exp Med. 2001 Mar 19;193(6):679-88.
32. Targeting transcription factor Stat4 uncovers a role for interleukin-18 in the pathogenesis of severe lupus nephritis in mice. Menke J, etal., Kidney Int. 2011 Feb;79(4):452-63. Epub 2010 Oct 27.
33. Association of STAT4 polymorphisms with susceptibility to type-1 autoimmune hepatitis in the Japanese population. Migita K, etal., PLoS One. 2013 Aug 22;8(8):e71382. doi: 10.1371/journal.pone.0071382. eCollection 2013.
34. The JAK-STAT signaling pathway: input and output integration. Murray PJ J Immunol. 2007 Mar 1;178(5):2623-9.
35. Quantitative PCR on 5 genes reliably identifies CTCL patients with 5% to 99% circulating tumor cells with 90% accuracy. Nebozhyn M, etal., Blood. 2006 Apr 15;107(8):3189-96. Epub 2006 Jan 10.
36. STAT4 is critical for immunity but not for antileishmanial activity of antimonials in experimental visceral leishmaniasis. Oghumu S, etal., Eur J Immunol. 2014 Feb;44(2):450-9. doi: 10.1002/eji.201343477. Epub 2013 Nov 15.
37. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
38. Influence of STAT4 polymorphism in primary Sjogren's syndrome. Palomino-Morales RJ, etal., J Rheumatol. 2010 May;37(5):1016-9. doi: 10.3899/jrheum.091007. Epub 2010 Apr 1.
39. Activation of the 12-lipoxygenase and signal transducer and activator of transcription pathway during neointima formation in a model of the metabolic syndrome. Pei H, etal., Am J Physiol Endocrinol Metab. 2006 Jan;290(1):E92-E102. Epub 2005 Aug 23.
40. Contribution of STAT4 gene single-nucleotide polymorphism to systemic lupus erythematosus in the Polish population. Piotrowski P, etal., Mol Biol Rep. 2012 Sep;39(9):8861-6. doi: 10.1007/s11033-012-1752-3. Epub 2012 Jun 24.
41. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
42. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
43. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
44. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
45. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
46. Cytokine and chemokine expression associated with steatohepatitis and hepatocyte proliferation in rats fed ethanol via total enteral nutrition. Ronis MJ, etal., Exp Biol Med (Maywood). 2008 Mar;233(3):344-55. doi: 10.3181/0707-RM-203.
47. The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype. Rueda B, etal., Hum Mol Genet. 2009 Jun 1;18(11):2071-7. doi: 10.1093/hmg/ddp119. Epub 2009 Mar 13.
48. Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus. Sanchez E, etal., Ann Rheum Dis. 2011 Jun 30.
49. Association of variants in innate immune genes with asthma and eczema. Sharma S, etal., Pediatr Allergy Immunol. 2012 Jun;23(4):315-23. doi: 10.1111/j.1399-3038.2011.01243.x. Epub 2011 Dec 23.
50. JAK/STAT/SOCS-signaling pathway and colon and rectal cancer. Slattery ML, etal., Mol Carcinog. 2013 Feb;52(2):155-66. doi: 10.1002/mc.21841. Epub 2011 Nov 28.
51. STAT-4 mediated IL-12 signaling pathway is critical for the development of protective immunity in cutaneous leishmaniasis. Stamm LM, etal., Eur J Immunol. 1999 Aug;29(8):2524-9.
52. Positive association between STAT4 polymorphisms and polymyositis/dermatomyositis in a Japanese population. Sugiura T, etal., Ann Rheum Dis. 2012 Oct;71(10):1646-50. doi: 10.1136/annrheumdis-2011-200839. Epub 2012 Mar 8.
53. Association between a C8orf13-BLK polymorphism and polymyositis/dermatomyositis in the Japanese population: an additive effect with STAT4 on disease susceptibility. Sugiura T, etal., PLoS One. 2014 Mar 14;9(3):e90019. doi: 10.1371/journal.pone.0090019. eCollection 2014.
54. STAT4 regulates antiviral gamma interferon responses and recurrent disease during herpes simplex virus 2 infection. Svensson A, etal., J Virol. 2012 Sep;86(17):9409-15. doi: 10.1128/JVI.00947-12. Epub 2012 Jun 20.
55. Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosus. Taylor KE, etal., PLoS Genet. 2008 May 30;4(5):e1000084. doi: 10.1371/journal.pgen.1000084.
56. Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap. Vuong MT, etal., PLoS One. 2010 May 10;5(5):e10559. doi: 10.1371/journal.pone.0010559.
57. [Relationship of reduced lung function with Th1/Th2 polarization, STAT4/6 expression in rats of chronic obstructive pulmonary disease]. Wang C and Li Z, Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2013 Dec;29(12):1233-6.
58. STAT4 knockout mice are more susceptible to concanavalin A-induced T-cell hepatitis. Wang Y, etal., Am J Pathol. 2014 Jun;184(6):1785-94. doi: 10.1016/j.ajpath.2014.02.023. Epub 2014 Apr 13.
59. Polymorphisms in STAT4 increase the risk of acute renal allograft rejection in the Chinese population. Yang H, etal., Transpl Immunol. 2011 May;24(4):216-9. doi: 10.1016/j.trim.2011.01.001. Epub 2011 Jan 13.
60. STAT4 is a genetic risk factor for systemic sclerosis in a Chinese population. Yi L, etal., Int J Immunopathol Pharmacol. 2013 Apr-Jun;26(2):473-8.
61. Role of hepatic resident and infiltrating macrophages in liver repair after acute injury. You Q, etal., Biochem Pharmacol. 2013 Sep 15;86(6):836-43. doi: 10.1016/j.bcp.2013.07.006. Epub 2013 Jul 19.
62. STAT4 gene polymorphism is associated with psoriasis in the genetically homogeneous population of Crete, Greece. Zervou MI, etal., Hum Immunol. 2009 Sep;70(9):738-41. doi: 10.1016/j.humimm.2009.05.008. Epub 2009 Jun 17.
63. [Single nucleotide polymorphism of STAT4 rs7574865 is associated with the susceptibility of primary biliary cirrhosis in Han population of partial regions of Jiangsu province]. Zheng L and Zhou H, Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2017 Apr;33(4):521-525.
Additional References at PubMed
PMID:7638186   PMID:8007943   PMID:8700208   PMID:9284918   PMID:9630226   PMID:9890938   PMID:9989503   PMID:10415122   PMID:10779770   PMID:10961885   PMID:11397944   PMID:11801649  
PMID:12372421   PMID:12426389   PMID:12477932   PMID:12496413   PMID:12615922   PMID:12716907   PMID:12805384   PMID:14660657   PMID:14688310   PMID:14704793   PMID:15087447   PMID:15489334  
PMID:15522880   PMID:15637551   PMID:15744455   PMID:15864272   PMID:15963787   PMID:16081070   PMID:16301617   PMID:17046972   PMID:17095088   PMID:17532201   PMID:17703412   PMID:17804842  
PMID:17932559   PMID:18029348   PMID:18037959   PMID:18204098   PMID:18204446   PMID:18432273   PMID:18434327   PMID:18576330   PMID:18576336   PMID:18579578   PMID:18591661   PMID:18625278  
PMID:18703106   PMID:18759272   PMID:18802110   PMID:19019891   PMID:19092842   PMID:19109131   PMID:19110536   PMID:19120275   PMID:19165918   PMID:19225526   PMID:19258923   PMID:19274049  
PMID:19282076   PMID:19332627   PMID:19333953   PMID:19359411   PMID:19362457   PMID:19371230   PMID:19404967   PMID:19423540   PMID:19479340   PMID:19565500   PMID:19588142   PMID:19605742  
PMID:19605749   PMID:19644876   PMID:19674979   PMID:19684152   PMID:19710469   PMID:19717398   PMID:19737838   PMID:19741008   PMID:19762360   PMID:19838193   PMID:19877059   PMID:20049410  
PMID:20131273   PMID:20153791   PMID:20169389   PMID:20176035   PMID:20219786   PMID:20233754   PMID:20237121   PMID:20237496   PMID:20353580   PMID:20379614   PMID:20383147   PMID:20406964  
PMID:20438785   PMID:20439292   PMID:20444755   PMID:20453440   PMID:20453841   PMID:20453842   PMID:20454450   PMID:20498205   PMID:20503287   PMID:20584675   PMID:20716621   PMID:20797713  
PMID:20822712   PMID:20848568   PMID:20861858   PMID:20881011   PMID:20962850   PMID:21163111   PMID:21167895   PMID:21258797   PMID:21383967   PMID:21399635   PMID:21408207   PMID:21418779  
PMID:21543583   PMID:21683716   PMID:21740896   PMID:21750679   PMID:21779181   PMID:21826217   PMID:21873635   PMID:22001757   PMID:22069275   PMID:22077060   PMID:22133489   PMID:22483685  
PMID:22569826   PMID:22714917   PMID:22730365   PMID:22740693   PMID:22753649   PMID:22937072   PMID:23000144   PMID:23053960   PMID:23064011   PMID:23128233   PMID:23202532   PMID:23242368  
PMID:23273568   PMID:23291587   PMID:23295549   PMID:23360093   PMID:23628400   PMID:23727609   PMID:23740937   PMID:23748017   PMID:23773642   PMID:23912645   PMID:24014567   PMID:24058793  
PMID:24097066   PMID:24162774   PMID:24312163   PMID:24386384   PMID:24390342   PMID:24561123   PMID:24610875   PMID:24614117   PMID:24697319   PMID:24751105   PMID:24844303   PMID:24871463  
PMID:24979672   PMID:25019342   PMID:25178516   PMID:25179669   PMID:25351936   PMID:25365208   PMID:25369137   PMID:25486484   PMID:25665738   PMID:25771902   PMID:25781893   PMID:25814554  
PMID:25852285   PMID:25864744   PMID:25913043   PMID:25963842   PMID:26066297   PMID:26097239   PMID:26344197   PMID:26538132   PMID:26569609   PMID:26704347   PMID:26712637   PMID:26765219  
PMID:26782418   PMID:26990433   PMID:27178308   PMID:27234231   PMID:27235632   PMID:27342690   PMID:27394003   PMID:27444301   PMID:27494881   PMID:27960128   PMID:28107378   PMID:28114283  
PMID:28145159   PMID:28400678   PMID:28420002   PMID:28424905   PMID:28516569   PMID:28524764   PMID:28631694   PMID:28852993   PMID:29029192   PMID:29187449   PMID:29276866   PMID:29330562  
PMID:29475858   PMID:29523850   PMID:29576322   PMID:29956222   PMID:29963713   PMID:30041578   PMID:30044774   PMID:30054428   PMID:30426475   PMID:30463656   PMID:30502321   PMID:30620272  
PMID:30642265   PMID:30660736   PMID:30864557   PMID:30882006   PMID:30887509   PMID:31160486   PMID:31562212   PMID:31628681   PMID:31757580   PMID:31916109   PMID:32120844   PMID:32226303  
PMID:32397798   PMID:32429712   PMID:32439233   PMID:32661180   PMID:32711605   PMID:32814053   PMID:32945358   PMID:33493517   PMID:33512094   PMID:33636177   PMID:33687153   PMID:33766895  
PMID:33796885   PMID:33833419   PMID:33896832   PMID:33961781   PMID:34100914   PMID:34176465   PMID:35136014   PMID:35140242   PMID:35224833   PMID:35367598   PMID:35610746   PMID:35844542  
PMID:35880842   PMID:36226497   PMID:36575804   PMID:36980810   PMID:37256972   PMID:37264954   PMID:37756335   PMID:37932931   PMID:38341034   PMID:38397230   PMID:38429845   PMID:38466361  
PMID:38654468   PMID:38774752   PMID:39188021   PMID:39337665  


Genomics

Comparative Map Data
STAT4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382191,029,576 - 191,151,596 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2191,029,576 - 191,178,435 (-)EnsemblGRCh38hg38GRCh38
GRCh372191,894,302 - 192,016,322 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362191,602,551 - 191,724,170 (-)NCBINCBI36Build 36hg18NCBI36
Build 342191,719,811 - 191,841,431NCBI
Celera2185,488,908 - 185,610,548 (-)NCBICelera
Cytogenetic Map2q32.2-q32.3NCBI
HuRef2183,753,956 - 183,875,743 (-)NCBIHuRef
CHM1_12191,900,128 - 192,022,113 (-)NCBICHM1_1
T2T-CHM13v2.02191,518,699 - 191,663,236 (-)NCBIT2T-CHM13v2.0
Stat4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39152,026,265 - 52,146,348 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl152,026,307 - 52,146,348 (+)EnsemblGRCm39 Ensembl
GRCm38151,987,106 - 52,107,189 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl151,987,148 - 52,107,189 (+)EnsemblGRCm38mm10GRCm38
MGSCv37152,065,088 - 52,164,028 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36151,952,789 - 52,051,729 (+)NCBIMGSCv36mm8
Celera152,546,764 - 52,645,629 (+)NCBICelera
Cytogenetic Map1C1.1NCBI
cM Map126.67NCBI
Stat4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8956,964,617 - 57,080,523 (-)NCBIGRCr8
mRatBN7.2949,472,660 - 49,588,540 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl949,419,340 - 49,588,540 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx958,021,896 - 58,130,745 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0963,144,732 - 63,253,572 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0961,440,716 - 61,549,562 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0954,340,649 - 54,457,753 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl954,287,541 - 54,484,533 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0954,051,154 - 54,167,491 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4946,510,251 - 46,650,076 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1946,511,665 - 46,651,490 (-)NCBI
Celera947,135,713 - 47,243,684 (-)NCBICelera
Cytogenetic Map9q22NCBI
Stat4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554038,061,471 - 8,144,276 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554038,061,471 - 8,144,252 (+)NCBIChiLan1.0ChiLan1.0
STAT4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21393,711,969 - 93,930,627 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B93,727,052 - 93,945,611 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B78,331,402 - 78,549,231 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B196,247,617 - 196,394,154 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B196,247,881 - 196,366,011 (-)Ensemblpanpan1.1panPan2
STAT4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1371,566,563 - 1,685,378 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl371,566,585 - 1,829,894 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha372,514,598 - 2,633,404 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0371,453,968 - 1,572,676 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl371,453,990 - 1,550,821 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1371,463,313 - 1,581,898 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0371,431,241 - 1,549,848 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0371,459,885 - 1,578,875 (-)NCBIUU_Cfam_GSD_1.0
Stat4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303149,652,139 - 149,767,224 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365067,095,009 - 7,184,689 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365067,091,982 - 7,185,938 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STAT4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1595,656,077 - 95,763,472 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11595,656,206 - 95,764,099 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215106,914,582 - 106,960,243 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.215107,069,138 - 107,073,997 (-)NCBISscrofa10.2Sscrofa10.2susScr3
STAT4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11076,553,626 - 76,708,540 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1076,553,606 - 76,674,928 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040122,773,405 - 122,923,766 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Stat4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248544,976,507 - 5,057,391 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248544,975,724 - 5,056,940 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in STAT4
375 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003151.4(STAT4):c.274-23582= single nucleotide variant Systemic lupus erythematosus, susceptibility to, 11 [RCV000024612] Chr2:191099907 [GRCh38]
Chr2:191964633 [GRCh37]
Chr2:2q32.2
risk factor
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2
pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1
pathogenic
GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1 copy number loss See cases [RCV000052559] Chr2:177874070..198525492 [GRCh38]
Chr2:178738797..199390216 [GRCh37]
Chr2:178447043..199098461 [NCBI36]
Chr2:2q31.2-33.1
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
NM_003151.3(STAT4):c.215C>T (p.Ser72Phe) single nucleotide variant Malignant melanoma [RCV000065333] Chr2:191146671 [GRCh38]
Chr2:192011397 [GRCh37]
Chr2:191719642 [NCBI36]
Chr2:2q32.3
not provided
NM_003151.3(STAT4):c.1640C>T (p.Ser547Leu) single nucleotide variant Malignant melanoma [RCV000060431] Chr2:191033986 [GRCh38]
Chr2:191898712 [GRCh37]
Chr2:191606957 [NCBI36]
Chr2:2q32.2
not provided
NM_003151.3(STAT4):c.1620+1G>A single nucleotide variant Malignant melanoma [RCV000060432] Chr2:191034547 [GRCh38]
Chr2:191899273 [GRCh37]
Chr2:191607518 [NCBI36]
Chr2:2q32.2
not provided
NM_003151.3(STAT4):c.1252-5505C>T single nucleotide variant Lung cancer [RCV000091771] Chr2:191046653 [GRCh38]
Chr2:191911379 [GRCh37]
Chr2:2q32.2
uncertain significance
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 copy number loss See cases [RCV000135876] Chr2:186027472..201059372 [GRCh38]
Chr2:186892199..201924095 [GRCh37]
Chr2:186600444..201632340 [NCBI36]
Chr2:2q32.1-33.1
pathogenic
GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1 copy number loss See cases [RCV000138253] Chr2:181758701..192015392 [GRCh38]
Chr2:182623428..192880118 [GRCh37]
Chr2:182331673..192588363 [NCBI36]
Chr2:2q31.3-32.3
pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1 copy number loss See cases [RCV000141735] Chr2:177827730..195125329 [GRCh38]
Chr2:178692457..195990053 [GRCh37]
Chr2:178400703..195698298 [NCBI36]
Chr2:2q31.2-32.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 copy number loss See cases [RCV000143484] Chr2:176086763..193201970 [GRCh38]
Chr2:176951491..194066696 [GRCh37]
Chr2:176659737..193774941 [NCBI36]
Chr2:2q31.1-32.3
pathogenic
NM_003151.4(STAT4):c.161C>T (p.Thr54Met) single nucleotide variant not provided [RCV001982616]|not specified [RCV004043699] Chr2:191146725 [GRCh38]
Chr2:192011451 [GRCh37]
Chr2:2q32.3
likely benign|uncertain significance
GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1 copy number loss See cases [RCV000239432] Chr2:177315153..196375520 [GRCh37]
Chr2:2q31.1-32.3
pathogenic
NM_003151.4(STAT4):c.1949C>A (p.Ala650Asp) single nucleotide variant Disabling pansclerotic morphea of childhood [RCV003313749] Chr2:191033053 [GRCh38]
Chr2:191897779 [GRCh37]
Chr2:2q32.2
pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
NM_003151.4(STAT4):c.1113-4C>T single nucleotide variant not provided [RCV001520909]|not specified [RCV000455357] Chr2:191058115 [GRCh38]
Chr2:191922841 [GRCh37]
Chr2:2q32.2
benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_003151.4(STAT4):c.1904C>T (p.Ala635Val) single nucleotide variant Disabling pansclerotic morphea of childhood [RCV003313748] Chr2:191033098 [GRCh38]
Chr2:191897824 [GRCh37]
Chr2:2q32.2
pathogenic
NM_003151.4(STAT4):c.1867C>T (p.His623Tyr) single nucleotide variant Disabling pansclerotic morphea of childhood [RCV003313750] Chr2:191033135 [GRCh38]
Chr2:191897861 [GRCh37]
Chr2:2q32.2
pathogenic
GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1 copy number loss not provided [RCV000682165] Chr2:191750202..202297376 [GRCh37]
Chr2:2q32.2-33.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q32.2-33.1(chr2:189490490-200615496)x1 copy number loss not provided [RCV000740789] Chr2:189490490..200615496 [GRCh37]
Chr2:2q32.2-33.1
pathogenic
GRCh37/hg19 2q32.2-32.3(chr2:191683388-191913799)x3 copy number gain not provided [RCV000740821] Chr2:191683388..191913799 [GRCh37]
Chr2:2q32.2-32.3
benign
GRCh37/hg19 2q32.3(chr2:191917235-191954852)x1 copy number loss not provided [RCV000740822] Chr2:191917235..191954852 [GRCh37]
Chr2:2q32.3
benign
GRCh37/hg19 2q32.3(chr2:191995361-191998349)x1 copy number loss not provided [RCV000740823] Chr2:191995361..191998349 [GRCh37]
Chr2:2q32.3
benign
NM_003151.4(STAT4):c.343A>G (p.Ile115Val) single nucleotide variant not provided [RCV000917583] Chr2:191076256 [GRCh38]
Chr2:191940982 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1204T>G (p.Leu402Val) single nucleotide variant not specified [RCV004317712] Chr2:191058020 [GRCh38]
Chr2:191922746 [GRCh37]
Chr2:2q32.2
uncertain significance
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2
pathogenic
NM_003151.4(STAT4):c.1515C>T (p.Tyr505=) single nucleotide variant not provided [RCV000901219] Chr2:191036219 [GRCh38]
Chr2:191900945 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.318A>G (p.Ser106=) single nucleotide variant not provided [RCV000972386] Chr2:191076281 [GRCh38]
Chr2:191941007 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.507C>T (p.Asp169=) single nucleotide variant not provided [RCV000883908] Chr2:191069730 [GRCh38]
Chr2:191934456 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.765C>T (p.Leu255=) single nucleotide variant not provided [RCV000908471] Chr2:191064824 [GRCh38]
Chr2:191929550 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.522G>A (p.Arg174=) single nucleotide variant not provided [RCV000979287] Chr2:191069715 [GRCh38]
Chr2:191934441 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1476T>C (p.Ser492=) single nucleotide variant not provided [RCV000879376] Chr2:191036258 [GRCh38]
Chr2:191900984 [GRCh37]
Chr2:2q32.2
benign|likely benign
NM_003151.4(STAT4):c.390C>T (p.Ser130=) single nucleotide variant not provided [RCV000920120] Chr2:191073173 [GRCh38]
Chr2:191937899 [GRCh37]
Chr2:2q32.2
likely benign
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 copy number loss not provided [RCV001005359] Chr2:174690039..195521582 [GRCh37]
Chr2:2q31.1-32.3
pathogenic
NM_003151.4(STAT4):c.816G>A (p.Leu272=) single nucleotide variant STAT4-related disorder [RCV003950402]|not provided [RCV000892266] Chr2:191062887 [GRCh38]
Chr2:191927613 [GRCh37]
Chr2:2q32.2
likely benign
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3
pathogenic
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
NC_000002.11:g.(?_191835429)_(192012929_?)del deletion Immunodeficiency 31B [RCV003107718]|not provided [RCV003113215] Chr2:191835429..192012929 [GRCh37]
Chr2:2q32.2-32.3
pathogenic|uncertain significance|no classifications from unflagged records
NC_000002.11:g.(?_189839216)_(192012929_?)dup duplication Immunodeficiency 31B [RCV003107719]|not provided [RCV003113217] Chr2:189839216..192012929 [GRCh37]
Chr2:2q32.2-32.3
uncertain significance|no classifications from unflagged records
NM_003151.4(STAT4):c.1596C>T (p.His532=) single nucleotide variant not provided [RCV000896371] Chr2:191034572 [GRCh38]
Chr2:191899298 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1284C>T (p.Ser428=) single nucleotide variant not provided [RCV000927695] Chr2:191041116 [GRCh38]
Chr2:191905842 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.1338C>A (p.Thr446=) single nucleotide variant not provided [RCV000888131]|not specified [RCV001702065] Chr2:191039295 [GRCh38]
Chr2:191904021 [GRCh37]
Chr2:2q32.2
benign|likely benign
NM_003151.4(STAT4):c.1914C>T (p.Phe638=) single nucleotide variant not provided [RCV000939017] Chr2:191033088 [GRCh38]
Chr2:191897814 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.114T>C (p.Ile38=) single nucleotide variant not provided [RCV000886432] Chr2:191148090 [GRCh38]
Chr2:192012816 [GRCh37]
Chr2:2q32.3
benign
NM_003151.4(STAT4):c.1035-8C>T single nucleotide variant not provided [RCV000930819] Chr2:191058777 [GRCh38]
Chr2:191923503 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.782+7C>T single nucleotide variant not provided [RCV000908971] Chr2:191064800 [GRCh38]
Chr2:191929526 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.1962T>C (p.Pro654=) single nucleotide variant not provided [RCV000936000] Chr2:191033040 [GRCh38]
Chr2:191897766 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.162G>A (p.Thr54=) single nucleotide variant not provided [RCV000935338] Chr2:191146724 [GRCh38]
Chr2:192011450 [GRCh37]
Chr2:2q32.3
likely benign
NM_003151.4(STAT4):c.782+7C>G single nucleotide variant not provided [RCV000911776] Chr2:191064800 [GRCh38]
Chr2:191929526 [GRCh37]
Chr2:2q32.2
likely benign
GRCh37/hg19 2q32.2-32.3(chr2:191686825-191908183)x3 copy number gain not provided [RCV002473660] Chr2:191686825..191908183 [GRCh37]
Chr2:2q32.2-32.3
uncertain significance
GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV001255693] Chr2:190345272..200212289 [GRCh37]
Chr2:2q32.2-33.1
pathogenic
GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3 copy number gain not provided [RCV001258567] Chr2:188294864..197731939 [GRCh37]
Chr2:2q32.1-33.1
likely pathogenic
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34
pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
NM_003151.4(STAT4):c.1952A>T (p.Glu651Val) single nucleotide variant not provided [RCV001341751] Chr2:191033050 [GRCh38]
Chr2:191897776 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.383A>T (p.Glu128Val) single nucleotide variant STAT4-related disorder [RCV003938632]|not provided [RCV001326416] Chr2:191073180 [GRCh38]
Chr2:191073180..191073181 [GRCh38]
Chr2:191937906 [GRCh37]
Chr2:191937906..191937907 [GRCh37]
Chr2:2q32.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003151.4(STAT4):c.722G>A (p.Arg241Gln) single nucleotide variant not provided [RCV001344837] Chr2:191064867 [GRCh38]
Chr2:191929593 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.274-13dup duplication not provided [RCV001523143] Chr2:191076328..191076329 [GRCh38]
Chr2:191941054..191941055 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.1620+12C>T single nucleotide variant not provided [RCV001516406] Chr2:191034536 [GRCh38]
Chr2:191899262 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.864T>C (p.Tyr288=) single nucleotide variant not provided [RCV001520922] Chr2:191062839 [GRCh38]
Chr2:191927565 [GRCh37]
Chr2:2q32.2
benign|likely benign
NM_003151.4(STAT4):c.1715+15A>G single nucleotide variant not provided [RCV001447343] Chr2:191033896 [GRCh38]
Chr2:191898622 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1336-19dup duplication not provided [RCV001509882] Chr2:191039310..191039311 [GRCh38]
Chr2:191904036..191904037 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.783-9G>A single nucleotide variant not provided [RCV001460009] Chr2:191062929 [GRCh38]
Chr2:191927655 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1053A>C (p.Pro351=) single nucleotide variant not provided [RCV001500972] Chr2:191058751 [GRCh38]
Chr2:191923477 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.805C>A (p.Leu269Ile) single nucleotide variant not provided [RCV001514135] Chr2:191062898 [GRCh38]
Chr2:191927624 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.941+15A>T single nucleotide variant not provided [RCV001513276] Chr2:191062747 [GRCh38]
Chr2:191927473 [GRCh37]
Chr2:2q32.2
benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_003151.4(STAT4):c.1178G>C (p.Gly393Ala) single nucleotide variant not provided [RCV001863517]|not specified [RCV004038968] Chr2:191058046 [GRCh38]
Chr2:191922772 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1414G>A (p.Val472Met) single nucleotide variant not provided [RCV001988112] Chr2:191039219 [GRCh38]
Chr2:191903945 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.260G>A (p.Arg87Lys) single nucleotide variant not provided [RCV001988114]|not specified [RCV004043802] Chr2:191146626 [GRCh38]
Chr2:192011352 [GRCh37]
Chr2:2q32.3
uncertain significance
NM_003151.4(STAT4):c.1852+5A>G single nucleotide variant not provided [RCV002045306] Chr2:191033485 [GRCh38]
Chr2:191898211 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1368T>G (p.Asn456Lys) single nucleotide variant not provided [RCV001987751] Chr2:191039265 [GRCh38]
Chr2:191903991 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.352G>A (p.Ala118Thr) single nucleotide variant not provided [RCV001891935] Chr2:191076247 [GRCh38]
Chr2:191940973 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1333G>A (p.Glu445Lys) single nucleotide variant not provided [RCV002009306] Chr2:191041067 [GRCh38]
Chr2:191905793 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1648T>C (p.Phe550Leu) single nucleotide variant not provided [RCV001988257] Chr2:191033978 [GRCh38]
Chr2:191898704 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.428T>G (p.Val143Gly) single nucleotide variant not provided [RCV001926923] Chr2:191073135 [GRCh38]
Chr2:191937861 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.931C>T (p.Leu311Phe) single nucleotide variant not provided [RCV002040234] Chr2:191062772 [GRCh38]
Chr2:191927498 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.2213A>C (p.Glu738Ala) single nucleotide variant not provided [RCV001983820] Chr2:191030979 [GRCh38]
Chr2:191895705 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.164T>G (p.Ile55Ser) single nucleotide variant not provided [RCV001871314] Chr2:191146722 [GRCh38]
Chr2:192011448 [GRCh37]
Chr2:2q32.3
uncertain significance
NM_003151.4(STAT4):c.1592G>A (p.Gly531Asp) single nucleotide variant not provided [RCV002022270] Chr2:191034576 [GRCh38]
Chr2:191899302 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1424A>G (p.Asn475Ser) single nucleotide variant not provided [RCV002006471]|not specified [RCV004045229] Chr2:191039209 [GRCh38]
Chr2:191903935 [GRCh37]
Chr2:2q32.2
likely benign|uncertain significance
NM_003151.4(STAT4):c.1020C>A (p.Phe340Leu) single nucleotide variant STAT4-related disorder [RCV003407960]|not provided [RCV001928810] Chr2:191061743 [GRCh38]
Chr2:191926469 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1337C>T (p.Thr446Ile) single nucleotide variant STAT4-related disorder [RCV003416612]|not provided [RCV001928851] Chr2:191039296 [GRCh38]
Chr2:191904022 [GRCh37]
Chr2:2q32.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003151.4(STAT4):c.173A>G (p.Gln58Arg) single nucleotide variant not provided [RCV001983436] Chr2:191146713 [GRCh38]
Chr2:192011439 [GRCh37]
Chr2:2q32.3
uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
NM_003151.4(STAT4):c.2219C>T (p.Ala740Val) single nucleotide variant not provided [RCV001912211] Chr2:191030973 [GRCh38]
Chr2:191895699 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.272A>G (p.Gln91Arg) single nucleotide variant not provided [RCV001985632] Chr2:191146614 [GRCh38]
Chr2:192011340 [GRCh37]
Chr2:2q32.3
uncertain significance
NM_003151.4(STAT4):c.1696C>A (p.Leu566Ile) single nucleotide variant not provided [RCV001899062] Chr2:191033930 [GRCh38]
Chr2:191898656 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.650C>T (p.Thr217Ile) single nucleotide variant not provided [RCV001903210] Chr2:191064939 [GRCh38]
Chr2:191929665 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.766G>A (p.Asp256Asn) single nucleotide variant not provided [RCV001922068] Chr2:191064823 [GRCh38]
Chr2:191929549 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.538A>G (p.Thr180Ala) single nucleotide variant not provided [RCV001923973] Chr2:191069699 [GRCh38]
Chr2:191934425 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.302T>C (p.Val101Ala) single nucleotide variant not provided [RCV001938583] Chr2:191076297 [GRCh38]
Chr2:191941023 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.733G>T (p.Ala245Ser) single nucleotide variant not provided [RCV001959263] Chr2:191064856 [GRCh38]
Chr2:191929582 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.959G>A (p.Arg320Gln) single nucleotide variant not provided [RCV002018095] Chr2:191061804 [GRCh38]
Chr2:191926530 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1621-9T>C single nucleotide variant not provided [RCV001997922] Chr2:191034014 [GRCh38]
Chr2:191898740 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1409A>G (p.Tyr470Cys) single nucleotide variant not provided [RCV002036267] Chr2:191039224 [GRCh38]
Chr2:191903950 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.108A>G (p.Gln36=) single nucleotide variant not provided [RCV001997305] Chr2:191148096 [GRCh38]
Chr2:192012822 [GRCh37]
Chr2:2q32.3
likely benign|uncertain significance
NM_003151.4(STAT4):c.2062A>G (p.Arg688Gly) single nucleotide variant not provided [RCV002028549] Chr2:191031499 [GRCh38]
Chr2:191896225 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1256G>A (p.Cys419Tyr) single nucleotide variant not provided [RCV001903218] Chr2:191041144 [GRCh38]
Chr2:191905870 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1549A>G (p.Met517Val) single nucleotide variant not provided [RCV002047194] Chr2:191036185 [GRCh38]
Chr2:191900911 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.700G>A (p.Glu234Lys) single nucleotide variant not provided [RCV001864918] Chr2:191064889 [GRCh38]
Chr2:191929615 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1523G>A (p.Arg508His) single nucleotide variant not provided [RCV001952365] Chr2:191036211 [GRCh38]
Chr2:191900937 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1511C>T (p.Ser504Leu) single nucleotide variant not provided [RCV001931787] Chr2:191036223 [GRCh38]
Chr2:191900949 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1468A>G (p.Thr490Ala) single nucleotide variant not provided [RCV001975847] Chr2:191036266 [GRCh38]
Chr2:191900992 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1340G>T (p.Ser447Ile) single nucleotide variant not provided [RCV001977756] Chr2:191039293 [GRCh38]
Chr2:191904019 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.733G>A (p.Ala245Thr) single nucleotide variant not provided [RCV001977838] Chr2:191064856 [GRCh38]
Chr2:191929582 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1621-3T>C single nucleotide variant not provided [RCV002011481] Chr2:191034008 [GRCh38]
Chr2:191898734 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.544G>A (p.Asp182Asn) single nucleotide variant not provided [RCV001995642] Chr2:191069693 [GRCh38]
Chr2:191934419 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.929A>G (p.Asn310Ser) single nucleotide variant not provided [RCV001923911] Chr2:191062774 [GRCh38]
Chr2:191927500 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.630+4A>G single nucleotide variant not provided [RCV002034347] Chr2:191066426 [GRCh38]
Chr2:191931152 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1895G>A (p.Arg632Gln) single nucleotide variant not provided [RCV002031211] Chr2:191033107 [GRCh38]
Chr2:191897833 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.2203A>G (p.Thr735Ala) single nucleotide variant not provided [RCV002047246]|not specified [RCV004038915] Chr2:191030989 [GRCh38]
Chr2:191895715 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.570G>C (p.Met190Ile) single nucleotide variant not provided [RCV001952355] Chr2:191066490 [GRCh38]
Chr2:191931216 [GRCh37]
Chr2:2q32.2
likely benign|uncertain significance
NM_003151.4(STAT4):c.810C>A (p.Phe270Leu) single nucleotide variant not provided [RCV001906082] Chr2:191062893 [GRCh38]
Chr2:191927619 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.350C>T (p.Ala117Val) single nucleotide variant not provided [RCV001920157] Chr2:191076249 [GRCh38]
Chr2:191940975 [GRCh37]
Chr2:2q32.2
uncertain significance
NC_000002.11:g.(?_191964633)_(192012929_?)dup duplication not provided [RCV001883070] Chr2:191964633..192012929 [GRCh37]
Chr2:2q32.3
uncertain significance
NM_003151.4(STAT4):c.921G>C (p.Leu307Phe) single nucleotide variant not provided [RCV002018081] Chr2:191062782 [GRCh38]
Chr2:191927508 [GRCh37]
Chr2:2q32.2
conflicting interpretations of pathogenicity|uncertain significance
NM_003151.4(STAT4):c.1275A>T (p.Glu425Asp) single nucleotide variant not provided [RCV001981643] Chr2:191041125 [GRCh38]
Chr2:191905851 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1259A>C (p.His420Pro) single nucleotide variant not provided [RCV001991456] Chr2:191041141 [GRCh38]
Chr2:191905867 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.654A>G (p.Gln218=) single nucleotide variant STAT4-related disorder [RCV003893005]|not provided [RCV001997017] Chr2:191064935 [GRCh38]
Chr2:191929661 [GRCh37]
Chr2:2q32.2
likely benign|uncertain significance
NM_003151.4(STAT4):c.1219A>T (p.Met407Leu) single nucleotide variant not provided [RCV001924969]|not specified [RCV004681293] Chr2:191054522 [GRCh38]
Chr2:191919248 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1959T>G (p.Ile653Met) single nucleotide variant not provided [RCV001940223] Chr2:191033043 [GRCh38]
Chr2:191897769 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.993G>A (p.Pro331=) single nucleotide variant not provided [RCV001951796] Chr2:191061770 [GRCh38]
Chr2:191926496 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.643A>C (p.Lys215Gln) single nucleotide variant not provided [RCV002034907] Chr2:191064946 [GRCh38]
Chr2:191929672 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1159A>G (p.Ile387Val) single nucleotide variant not provided [RCV001979368]|not specified [RCV004044561] Chr2:191058065 [GRCh38]
Chr2:191922791 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.2111+10G>A single nucleotide variant not provided [RCV002127948] Chr2:191031440 [GRCh38]
Chr2:191896166 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.630+10G>T single nucleotide variant not provided [RCV002145014] Chr2:191066420 [GRCh38]
Chr2:191931146 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.2045-15C>A single nucleotide variant not provided [RCV002192785] Chr2:191031531 [GRCh38]
Chr2:191896257 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.544+18C>T single nucleotide variant not provided [RCV002128321] Chr2:191069675 [GRCh38]
Chr2:191934401 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1896G>T (p.Arg632=) single nucleotide variant not provided [RCV002104471] Chr2:191033106 [GRCh38]
Chr2:191897832 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1094+14T>C single nucleotide variant not provided [RCV002106085] Chr2:191058696 [GRCh38]
Chr2:191923422 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1336-14del deletion not provided [RCV002075112] Chr2:191039311 [GRCh38]
Chr2:191904037 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.294A>C (p.Pro98=) single nucleotide variant not provided [RCV002206755] Chr2:191076305 [GRCh38]
Chr2:191941031 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.893C>T (p.Thr298Ile) single nucleotide variant STAT4-related disorder [RCV003978543]|not provided [RCV002187531] Chr2:191062810 [GRCh38]
Chr2:191927536 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1368T>C (p.Asn456=) single nucleotide variant not provided [RCV002092085] Chr2:191039265 [GRCh38]
Chr2:191903991 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1094+17C>T single nucleotide variant not provided [RCV002208642] Chr2:191058693 [GRCh38]
Chr2:191923419 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1715+11G>A single nucleotide variant not provided [RCV002087831] Chr2:191033900 [GRCh38]
Chr2:191898626 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.544+11G>T single nucleotide variant not provided [RCV002208309] Chr2:191069682 [GRCh38]
Chr2:191934408 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.129-14_129-13insA insertion not provided [RCV002125728] Chr2:191146770..191146771 [GRCh38]
Chr2:192011496..192011497 [GRCh37]
Chr2:2q32.3
likely benign
NM_003151.4(STAT4):c.372+7T>C single nucleotide variant not provided [RCV002167076] Chr2:191076220 [GRCh38]
Chr2:191940946 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.128+15A>G single nucleotide variant not provided [RCV002080201] Chr2:191148061 [GRCh38]
Chr2:192012787 [GRCh37]
Chr2:2q32.3
likely benign
NM_003151.4(STAT4):c.504A>G (p.Gln168=) single nucleotide variant not provided [RCV002211678] Chr2:191069733 [GRCh38]
Chr2:191934459 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1437C>T (p.Asn479=) single nucleotide variant not provided [RCV002113114] Chr2:191036297 [GRCh38]
Chr2:191901023 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.846A>G (p.Gln282=) single nucleotide variant not provided [RCV002079013] Chr2:191062857 [GRCh38]
Chr2:191927583 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.513T>C (p.Phe171=) single nucleotide variant not provided [RCV002113890] Chr2:191069724 [GRCh38]
Chr2:191934450 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.750A>G (p.Pro250=) single nucleotide variant not provided [RCV002171231] Chr2:191064839 [GRCh38]
Chr2:191929565 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.2208A>T (p.Thr736=) single nucleotide variant not provided [RCV002164972] Chr2:191030984 [GRCh38]
Chr2:191895710 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.2178G>A (p.Ala726=) single nucleotide variant not provided [RCV002174597] Chr2:191031014 [GRCh38]
Chr2:191895740 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.2040C>T (p.Cys680=) single nucleotide variant not provided [RCV002112277] Chr2:191032962 [GRCh38]
Chr2:191897688 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.544+20A>G single nucleotide variant not provided [RCV002133263] Chr2:191069673 [GRCh38]
Chr2:191934399 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1336-15T>C single nucleotide variant not provided [RCV002174064] Chr2:191039312 [GRCh38]
Chr2:191904038 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.1716-14T>A single nucleotide variant not provided [RCV002085589] Chr2:191033640 [GRCh38]
Chr2:191898366 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.466-13C>T single nucleotide variant not provided [RCV002216130] Chr2:191069784 [GRCh38]
Chr2:191934510 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.128+13A>G single nucleotide variant not provided [RCV002206286] Chr2:191148063 [GRCh38]
Chr2:192012789 [GRCh37]
Chr2:2q32.3
benign
NM_003151.4(STAT4):c.1094+18G>A single nucleotide variant not provided [RCV002188346] Chr2:191058692 [GRCh38]
Chr2:191923418 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1336-5del deletion not provided [RCV002080089] Chr2:191039302 [GRCh38]
Chr2:191904028 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1750C>A (p.Arg584=) single nucleotide variant not provided [RCV002130874] Chr2:191033592 [GRCh38]
Chr2:191898318 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1701C>T (p.Pro567=) single nucleotide variant not provided [RCV002096135] Chr2:191033925 [GRCh38]
Chr2:191898651 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.273+14C>T single nucleotide variant not provided [RCV002186253] Chr2:191146599 [GRCh38]
Chr2:192011325 [GRCh37]
Chr2:2q32.3
likely benign
NM_003151.4(STAT4):c.1570+17A>G single nucleotide variant not provided [RCV002131542] Chr2:191036147 [GRCh38]
Chr2:191900873 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.2013C>T (p.Phe671=) single nucleotide variant not provided [RCV002170705] Chr2:191032989 [GRCh38]
Chr2:191897715 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1715+18T>A single nucleotide variant not provided [RCV002114126] Chr2:191033893 [GRCh38]
Chr2:191898619 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1917T>C (p.Ala639=) single nucleotide variant not provided [RCV002073668] Chr2:191033085 [GRCh38]
Chr2:191897811 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1095-17T>A single nucleotide variant not provided [RCV002172640] Chr2:191058236 [GRCh38]
Chr2:191922962 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.2217T>G (p.Thr739=) single nucleotide variant not provided [RCV002077396] Chr2:191030975 [GRCh38]
Chr2:191895701 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1570+15A>C single nucleotide variant not provided [RCV002131543] Chr2:191036149 [GRCh38]
Chr2:191900875 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.2111+18C>T single nucleotide variant not provided [RCV002168236] Chr2:191031432 [GRCh38]
Chr2:191896158 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.567C>T (p.Ala189=) single nucleotide variant not provided [RCV002171074] Chr2:191066493 [GRCh38]
Chr2:191931219 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1206+19_1206+26del deletion not provided [RCV002119152] Chr2:191057992..191057999 [GRCh38]
Chr2:191922718..191922725 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1434+8C>T single nucleotide variant not provided [RCV002179341] Chr2:191039191 [GRCh38]
Chr2:191903917 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.369C>G (p.Val123=) single nucleotide variant not provided [RCV002123664] Chr2:191076230 [GRCh38]
Chr2:191940956 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1034+11A>T single nucleotide variant not provided [RCV002100883] Chr2:191061718 [GRCh38]
Chr2:191926444 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1128A>G (p.Val376=) single nucleotide variant not provided [RCV002158794] Chr2:191058096 [GRCh38]
Chr2:191922822 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1852+10C>G single nucleotide variant not provided [RCV002121135] Chr2:191033480 [GRCh38]
Chr2:191898206 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.719G>A (p.Arg240Gln) single nucleotide variant STAT4-related disorder [RCV003903545]|not provided [RCV002140797] Chr2:191064870 [GRCh38]
Chr2:191929596 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1290G>A (p.Thr430=) single nucleotide variant not provided [RCV002123165] Chr2:191041110 [GRCh38]
Chr2:191905836 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.732C>T (p.Ile244=) single nucleotide variant not provided [RCV002102640] Chr2:191064857 [GRCh38]
Chr2:191929583 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.630+9A>C single nucleotide variant not provided [RCV002118718] Chr2:191066421 [GRCh38]
Chr2:191931147 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1113-15A>C single nucleotide variant not provided [RCV002161075] Chr2:191058126 [GRCh38]
Chr2:191922852 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.129-3del deletion STAT4-related disorder [RCV003978712]|not provided [RCV002117907] Chr2:191146760 [GRCh38]
Chr2:192011486 [GRCh37]
Chr2:2q32.3
benign|likely benign
NM_003151.4(STAT4):c.782+8G>A single nucleotide variant not provided [RCV002184587] Chr2:191064799 [GRCh38]
Chr2:191929525 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.288A>G (p.Gly96=) single nucleotide variant not provided [RCV002200183] Chr2:191076311 [GRCh38]
Chr2:191941037 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1620+10G>A single nucleotide variant not provided [RCV002155507] Chr2:191034538 [GRCh38]
Chr2:191899264 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.375G>A (p.Gly125=) single nucleotide variant not provided [RCV002175243] Chr2:191073188 [GRCh38]
Chr2:191937914 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.399T>C (p.Ser133=) single nucleotide variant not provided [RCV002099943] Chr2:191073164 [GRCh38]
Chr2:191937890 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.273+17C>G single nucleotide variant not provided [RCV002155751] Chr2:191146596 [GRCh38]
Chr2:192011322 [GRCh37]
Chr2:2q32.3
likely benign
NM_003151.4(STAT4):c.1095-16C>G single nucleotide variant not provided [RCV002158685] Chr2:191058235 [GRCh38]
Chr2:191922961 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1621-14G>A single nucleotide variant not provided [RCV002155814] Chr2:191034019 [GRCh38]
Chr2:191898745 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1808A>G (p.His603Arg) single nucleotide variant not provided [RCV002297337] Chr2:191033534 [GRCh38]
Chr2:191898260 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.704T>G (p.Leu235Arg) single nucleotide variant not provided [RCV002297269] Chr2:191064885 [GRCh38]
Chr2:191929611 [GRCh37]
Chr2:2q32.2
uncertain significance
GRCh37/hg19 2q32.2-32.3(chr2:191686987-191908183)x3 copy number gain not provided [RCV002473651] Chr2:191686987..191908183 [GRCh37]
Chr2:2q32.2-32.3
uncertain significance
GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1 copy number loss not provided [RCV002472632] Chr2:187152754..199960525 [GRCh37]
Chr2:2q32.1-33.1
pathogenic
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34
pathogenic
NM_003151.4(STAT4):c.599A>T (p.Glu200Val) single nucleotide variant not provided [RCV002304496] Chr2:191066461 [GRCh38]
Chr2:191931187 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1425C>A (p.Asn475Lys) single nucleotide variant not provided [RCV002296652] Chr2:191039208 [GRCh38]
Chr2:191903934 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1133G>A (p.Cys378Tyr) single nucleotide variant not provided [RCV002299770] Chr2:191058091 [GRCh38]
Chr2:191922817 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1164A>G (p.Glu388=) single nucleotide variant not provided [RCV002730236] Chr2:191058060 [GRCh38]
Chr2:191922786 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.829G>C (p.Glu277Gln) single nucleotide variant not provided [RCV002685649] Chr2:191062874 [GRCh38]
Chr2:191927600 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.2127A>G (p.Thr709=) single nucleotide variant not provided [RCV003013396] Chr2:191031065 [GRCh38]
Chr2:191895791 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.2044+16T>C single nucleotide variant not provided [RCV002613744] Chr2:191032942 [GRCh38]
Chr2:191897668 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.466-11T>C single nucleotide variant not provided [RCV002971328] Chr2:191069782 [GRCh38]
Chr2:191934508 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1425C>T (p.Asn475=) single nucleotide variant not provided [RCV002775220] Chr2:191039208 [GRCh38]
Chr2:191903934 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.129-14dup duplication not provided [RCV002750092] Chr2:191146770..191146771 [GRCh38]
Chr2:192011496..192011497 [GRCh37]
Chr2:2q32.3
likely benign
NM_003151.4(STAT4):c.323G>C (p.Cys108Ser) single nucleotide variant not provided [RCV002613609] Chr2:191076276 [GRCh38]
Chr2:191941002 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.2217T>C (p.Thr739=) single nucleotide variant not provided [RCV002904172] Chr2:191030975 [GRCh38]
Chr2:191895701 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.997G>A (p.Val333Ile) single nucleotide variant not provided [RCV002775096]|not specified [RCV004673713] Chr2:191061766 [GRCh38]
Chr2:191926492 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.105C>T (p.Ala35=) single nucleotide variant not provided [RCV002881282] Chr2:191148099 [GRCh38]
Chr2:192012825 [GRCh37]
Chr2:2q32.3
likely benign
NM_003151.4(STAT4):c.1461A>C (p.Pro487=) single nucleotide variant not provided [RCV002881372] Chr2:191036273 [GRCh38]
Chr2:191900999 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.1030C>G (p.Leu344Val) single nucleotide variant not provided [RCV003035071] Chr2:191061733 [GRCh38]
Chr2:191926459 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.2204CAA[1] (p.Thr736del) microsatellite not provided [RCV002991719] Chr2:191030983..191030985 [GRCh38]
Chr2:191895709..191895711 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.615C>G (p.Leu205=) single nucleotide variant not provided [RCV002615042] Chr2:191066445 [GRCh38]
Chr2:191931171 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1557A>G (p.Ala519=) single nucleotide variant not provided [RCV003013988] Chr2:191036177 [GRCh38]
Chr2:191900903 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1852+16T>C single nucleotide variant not provided [RCV002727030] Chr2:191033474 [GRCh38]
Chr2:191898200 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.907A>G (p.Arg303Gly) single nucleotide variant not provided [RCV002815725] Chr2:191062796 [GRCh38]
Chr2:191927522 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.2112-14G>A single nucleotide variant not provided [RCV003017082] Chr2:191031094 [GRCh38]
Chr2:191895820 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1081G>A (p.Ala361Thr) single nucleotide variant not provided [RCV003097492] Chr2:191058723 [GRCh38]
Chr2:191923449 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1646C>A (p.Thr549Asn) single nucleotide variant not specified [RCV004137738] Chr2:191033980 [GRCh38]
Chr2:191898706 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1852+13T>C single nucleotide variant not provided [RCV002618065] Chr2:191033477 [GRCh38]
Chr2:191898203 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1716-8A>G single nucleotide variant not provided [RCV002927935] Chr2:191033634 [GRCh38]
Chr2:191898360 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1774C>G (p.Pro592Ala) single nucleotide variant not provided [RCV002593345] Chr2:191033568 [GRCh38]
Chr2:191898294 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.273+16A>G single nucleotide variant not provided [RCV002593217] Chr2:191146597 [GRCh38]
Chr2:192011323 [GRCh37]
Chr2:2q32.3
likely benign
NM_003151.4(STAT4):c.836T>C (p.Leu279Pro) single nucleotide variant not provided [RCV003021948] Chr2:191062867 [GRCh38]
Chr2:191927593 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1639T>C (p.Ser547Pro) single nucleotide variant not provided [RCV002800105] Chr2:191033987 [GRCh38]
Chr2:191898713 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.545-18A>G single nucleotide variant not provided [RCV002979646] Chr2:191066533 [GRCh38]
Chr2:191931259 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1520G>T (p.Gly507Val) single nucleotide variant not provided [RCV003037619] Chr2:191036214 [GRCh38]
Chr2:191900940 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1378T>C (p.Leu460=) single nucleotide variant not provided [RCV002867563] Chr2:191039255 [GRCh38]
Chr2:191903981 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1089T>C (p.Ile363=) single nucleotide variant not provided [RCV002952480] Chr2:191058715 [GRCh38]
Chr2:191923441 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1538A>T (p.Asp513Val) single nucleotide variant not provided [RCV002569803]|not specified [RCV004064326] Chr2:191036196 [GRCh38]
Chr2:191900922 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1871del (p.Ser624fs) deletion not provided [RCV002885086] Chr2:191033131 [GRCh38]
Chr2:191897857 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.475C>G (p.Gln159Glu) single nucleotide variant not specified [RCV004120261] Chr2:191069762 [GRCh38]
Chr2:191934488 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.941+11T>C single nucleotide variant not provided [RCV002569891] Chr2:191062751 [GRCh38]
Chr2:191927477 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.133G>A (p.Ala45Thr) single nucleotide variant not provided [RCV002638886] Chr2:191146753 [GRCh38]
Chr2:192011479 [GRCh37]
Chr2:2q32.3
uncertain significance
NM_003151.4(STAT4):c.274-4del deletion not provided [RCV002927144] Chr2:191076329 [GRCh38]
Chr2:191941055 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.113T>C (p.Ile38Thr) single nucleotide variant not provided [RCV002592869] Chr2:191148091 [GRCh38]
Chr2:192012817 [GRCh37]
Chr2:2q32.3
uncertain significance
NM_003151.4(STAT4):c.966A>G (p.Pro322=) single nucleotide variant not provided [RCV002780449] Chr2:191061797 [GRCh38]
Chr2:191926523 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.941+13C>T single nucleotide variant not provided [RCV002639961] Chr2:191062749 [GRCh38]
Chr2:191927475 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.2114G>A (p.Arg705Gln) single nucleotide variant not provided [RCV002619284] Chr2:191031078 [GRCh38]
Chr2:191895804 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.4T>G (p.Ser2Ala) single nucleotide variant not provided [RCV002781485] Chr2:191148200 [GRCh38]
Chr2:192012926 [GRCh37]
Chr2:2q32.3
uncertain significance
NM_003151.4(STAT4):c.1995T>C (p.Ile665=) single nucleotide variant not provided [RCV002591454] Chr2:191033007 [GRCh38]
Chr2:191897733 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1570+8C>G single nucleotide variant not provided [RCV003019624] Chr2:191036156 [GRCh38]
Chr2:191900882 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1983A>G (p.Leu661=) single nucleotide variant not provided [RCV002909965] Chr2:191033019 [GRCh38]
Chr2:191897745 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.129-3T>A single nucleotide variant not provided [RCV002620059] Chr2:191146760 [GRCh38]
Chr2:192011486 [GRCh37]
Chr2:2q32.3
uncertain significance
NM_003151.4(STAT4):c.904G>A (p.Glu302Lys) single nucleotide variant not specified [RCV004129243] Chr2:191062799 [GRCh38]
Chr2:191927525 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1336-8del deletion not provided [RCV003080890] Chr2:191039305 [GRCh38]
Chr2:191904031 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.128+8C>A single nucleotide variant not provided [RCV002639863] Chr2:191148068 [GRCh38]
Chr2:192012794 [GRCh37]
Chr2:2q32.3
likely benign
NM_003151.4(STAT4):c.1914C>A (p.Phe638Leu) single nucleotide variant not provided [RCV002949283] Chr2:191033088 [GRCh38]
Chr2:191897814 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.273+14C>G single nucleotide variant not provided [RCV002569937] Chr2:191146599 [GRCh38]
Chr2:192011325 [GRCh37]
Chr2:2q32.3
likely benign
NM_003151.4(STAT4):c.274-13T>G single nucleotide variant not provided [RCV002889206] Chr2:191076338 [GRCh38]
Chr2:191941064 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1426G>T (p.Asp476Tyr) single nucleotide variant not provided [RCV002785252] Chr2:191039207 [GRCh38]
Chr2:191903933 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1700C>T (p.Pro567Leu) single nucleotide variant not provided [RCV003043581] Chr2:191033926 [GRCh38]
Chr2:191898652 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1853-7T>G single nucleotide variant not provided [RCV002642282] Chr2:191033156 [GRCh38]
Chr2:191897882 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1021A>T (p.Thr341Ser) single nucleotide variant not provided [RCV002645719] Chr2:191061742 [GRCh38]
Chr2:191926468 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.544+16_544+17del deletion not provided [RCV002790096] Chr2:191069676..191069677 [GRCh38]
Chr2:191934402..191934403 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1750C>T (p.Arg584Trp) single nucleotide variant not provided [RCV002786292] Chr2:191033592 [GRCh38]
Chr2:191898318 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1112+7C>G single nucleotide variant not provided [RCV003006248] Chr2:191058195 [GRCh38]
Chr2:191922921 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.128+8C>G single nucleotide variant not provided [RCV002593745] Chr2:191148068 [GRCh38]
Chr2:192012794 [GRCh37]
Chr2:2q32.3
likely benign
NM_003151.4(STAT4):c.2220+10C>T single nucleotide variant not provided [RCV002573955] Chr2:191030962 [GRCh38]
Chr2:191895688 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1584C>T (p.Tyr528=) single nucleotide variant not provided [RCV002643782] Chr2:191034584 [GRCh38]
Chr2:191899310 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.274-14del deletion not provided [RCV002596843] Chr2:191076339 [GRCh38]
Chr2:191941065 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1621-14G>C single nucleotide variant not provided [RCV002932036] Chr2:191034019 [GRCh38]
Chr2:191898745 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1812C>T (p.Leu604=) single nucleotide variant not provided [RCV003085235] Chr2:191033530 [GRCh38]
Chr2:191898256 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1853-15T>C single nucleotide variant not provided [RCV002851894] Chr2:191033164 [GRCh38]
Chr2:191897890 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.783-11C>A single nucleotide variant not provided [RCV002801955] Chr2:191062931 [GRCh38]
Chr2:191927657 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1251+12T>G single nucleotide variant not provided [RCV002667024] Chr2:191054478 [GRCh38]
Chr2:191919204 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.372+3A>G single nucleotide variant not provided [RCV002790449] Chr2:191076224 [GRCh38]
Chr2:191940950 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.941+15A>G single nucleotide variant not provided [RCV002598077] Chr2:191062747 [GRCh38]
Chr2:191927473 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.423G>A (p.Arg141=) single nucleotide variant not provided [RCV002676386] Chr2:191073140 [GRCh38]
Chr2:191937866 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.2064G>C (p.Arg688Ser) single nucleotide variant not provided [RCV002675565] Chr2:191031497 [GRCh38]
Chr2:191896223 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.2068G>C (p.Asp690His) single nucleotide variant not provided [RCV002580944] Chr2:191031493 [GRCh38]
Chr2:191896219 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.209G>T (p.Arg70Leu) single nucleotide variant not provided [RCV002580579] Chr2:191146677 [GRCh38]
Chr2:192011403 [GRCh37]
Chr2:2q32.3
uncertain significance
NM_003151.4(STAT4):c.1464T>G (p.Pro488=) single nucleotide variant not provided [RCV002746614] Chr2:191036270 [GRCh38]
Chr2:191900996 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.693C>T (p.Leu231=) single nucleotide variant not provided [RCV002577529] Chr2:191064896 [GRCh38]
Chr2:191929622 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.351T>C (p.Ala117=) single nucleotide variant not provided [RCV002857597] Chr2:191076248 [GRCh38]
Chr2:191940974 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.630+20T>C single nucleotide variant not provided [RCV002715674] Chr2:191066410 [GRCh38]
Chr2:191931136 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.2238T>C (p.Ser746=) single nucleotide variant not provided [RCV002899486] Chr2:191029849 [GRCh38]
Chr2:191894575 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.427G>A (p.Val143Met) single nucleotide variant not provided [RCV003086031] Chr2:191073136 [GRCh38]
Chr2:191937862 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.136G>T (p.Ala46Ser) single nucleotide variant not provided [RCV002933561] Chr2:191146750 [GRCh38]
Chr2:192011476 [GRCh37]
Chr2:2q32.3
uncertain significance
NM_003151.4(STAT4):c.1227C>T (p.Ser409=) single nucleotide variant not provided [RCV002716292] Chr2:191054514 [GRCh38]
Chr2:191919240 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.834A>G (p.Lys278=) single nucleotide variant not provided [RCV002576882] Chr2:191062869 [GRCh38]
Chr2:191927595 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.2110A>G (p.Ile704Val) single nucleotide variant not provided [RCV002715678]|not specified [RCV004067676] Chr2:191031451 [GRCh38]
Chr2:191896177 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1434+8_1434+9del microsatellite not provided [RCV002671443] Chr2:191039190..191039191 [GRCh38]
Chr2:191903916..191903917 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1581C>T (p.Ser527=) single nucleotide variant not provided [RCV002676115] Chr2:191034587 [GRCh38]
Chr2:191899313 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1435-9_1435-8del microsatellite not provided [RCV002633199] Chr2:191036307..191036308 [GRCh38]
Chr2:191901033..191901034 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.849T>C (p.Ser283=) single nucleotide variant not provided [RCV002604339] Chr2:191062854 [GRCh38]
Chr2:191927580 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1426G>A (p.Asp476Asn) single nucleotide variant not provided [RCV002605667] Chr2:191039207 [GRCh38]
Chr2:191903933 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.299A>G (p.His100Arg) single nucleotide variant not provided [RCV002583913] Chr2:191076300 [GRCh38]
Chr2:191941026 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.96T>G (p.His32Gln) single nucleotide variant not provided [RCV003032011] Chr2:191148108 [GRCh38]
Chr2:192012834 [GRCh37]
Chr2:2q32.3
uncertain significance
NM_003151.4(STAT4):c.93G>T (p.Arg31=) single nucleotide variant not provided [RCV003093008] Chr2:191148111 [GRCh38]
Chr2:192012837 [GRCh37]
Chr2:2q32.3
likely benign
NM_003151.4(STAT4):c.358A>G (p.Asn120Asp) single nucleotide variant not provided [RCV002605053] Chr2:191076241 [GRCh38]
Chr2:191940967 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.887A>T (p.Gln296Leu) single nucleotide variant not provided [RCV003049882] Chr2:191062816 [GRCh38]
Chr2:191927542 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.129-15C>A single nucleotide variant not provided [RCV002635737] Chr2:191146772 [GRCh38]
Chr2:192011498 [GRCh37]
Chr2:2q32.3
likely benign
NM_003151.4(STAT4):c.630+18A>G single nucleotide variant not provided [RCV002608963] Chr2:191066412 [GRCh38]
Chr2:191931138 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1289C>T (p.Thr430Met) single nucleotide variant STAT4-related disorder [RCV003898830]|not provided [RCV002588691] Chr2:191041111 [GRCh38]
Chr2:191905837 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1624C>T (p.His542Tyr) single nucleotide variant not provided [RCV002634970] Chr2:191034002 [GRCh38]
Chr2:191898728 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.931C>G (p.Leu311Val) single nucleotide variant not provided [RCV002680868] Chr2:191062772 [GRCh38]
Chr2:191927498 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1620+9G>A single nucleotide variant not provided [RCV002585623] Chr2:191034539 [GRCh38]
Chr2:191899265 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1620+13G>A single nucleotide variant not provided [RCV002612694] Chr2:191034535 [GRCh38]
Chr2:191899261 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.674T>G (p.Leu225Arg) single nucleotide variant Systemic lupus erythematosus, susceptibility to, 11 [RCV003142456] Chr2:191064915 [GRCh38]
Chr2:191929641 [GRCh37]
Chr2:2q32.2
uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1
pathogenic
NM_003151.4(STAT4):c.1063T>A (p.Tyr355Asn) single nucleotide variant not specified [RCV004358958] Chr2:191058741 [GRCh38]
Chr2:191923467 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1007C>T (p.Thr336Ile) single nucleotide variant not specified [RCV004365358] Chr2:191061756 [GRCh38]
Chr2:191926482 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1643_1651del (p.Phe548_Phe550del) deletion not provided [RCV003543395] Chr2:191033975..191033983 [GRCh38]
Chr2:191898701..191898709 [GRCh37]
Chr2:2q32.2
uncertain significance
GRCh37/hg19 2q32.3(chr2:191963204-192222389)x3 copy number gain not provided [RCV003484082] Chr2:191963204..192222389 [GRCh37]
Chr2:2q32.3
uncertain significance
NM_003151.4(STAT4):c.252A>G (p.Lys84=) single nucleotide variant not provided [RCV003569602] Chr2:191146634 [GRCh38]
Chr2:192011360 [GRCh37]
Chr2:2q32.3
likely benign
NM_003151.4(STAT4):c.100T>C (p.Leu34=) single nucleotide variant not provided [RCV003570374] Chr2:191148104 [GRCh38]
Chr2:192012830 [GRCh37]
Chr2:2q32.3
likely benign
NM_003151.4(STAT4):c.1857A>G (p.Glu619=) single nucleotide variant not provided [RCV003543240] Chr2:191033145 [GRCh38]
Chr2:191897871 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.442G>A (p.Ala148Thr) single nucleotide variant not provided [RCV003440113] Chr2:191073121 [GRCh38]
Chr2:191937847 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1853G>A (p.Gly618Glu) single nucleotide variant STAT4-related disorder [RCV003405853] Chr2:191033149 [GRCh38]
Chr2:191897875 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.477A>G (p.Gln159=) single nucleotide variant not provided [RCV003882427] Chr2:191069760 [GRCh38]
Chr2:191934486 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.367G>T (p.Val123Phe) single nucleotide variant not provided [RCV003695450] Chr2:191076232 [GRCh38]
Chr2:191940958 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.2014G>A (p.Gly672Ser) single nucleotide variant not provided [RCV003879246] Chr2:191032988 [GRCh38]
Chr2:191897714 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.435C>T (p.His145=) single nucleotide variant not provided [RCV003577513] Chr2:191073128 [GRCh38]
Chr2:191937854 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1937A>G (p.Lys646Arg) single nucleotide variant not provided [RCV003828622] Chr2:191033065 [GRCh38]
Chr2:191897791 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1570+16_1570+19del microsatellite not provided [RCV003660104] Chr2:191036145..191036148 [GRCh38]
Chr2:191900871..191900874 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.727C>A (p.Gln243Lys) single nucleotide variant not provided [RCV003830795] Chr2:191064862 [GRCh38]
Chr2:191929588 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.129-14_129-13insG insertion not provided [RCV003695673] Chr2:191146770..191146771 [GRCh38]
Chr2:192011496..192011497 [GRCh37]
Chr2:2q32.3
likely benign
NM_003151.4(STAT4):c.1716-9T>C single nucleotide variant not provided [RCV003660100] Chr2:191033635 [GRCh38]
Chr2:191898361 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1927C>A (p.Arg643=) single nucleotide variant not provided [RCV003738647] Chr2:191033075 [GRCh38]
Chr2:191897801 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1336-13C>T single nucleotide variant not provided [RCV003572931] Chr2:191039310 [GRCh38]
Chr2:191904036 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.670G>T (p.Asp224Tyr) single nucleotide variant not provided [RCV003578092] Chr2:191064919 [GRCh38]
Chr2:191929645 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.783-6C>T single nucleotide variant not provided [RCV003662023] Chr2:191062926 [GRCh38]
Chr2:191927652 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1715+5G>A single nucleotide variant not provided [RCV003694223] Chr2:191033906 [GRCh38]
Chr2:191898632 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.531A>C (p.Thr177=) single nucleotide variant not provided [RCV003576976] Chr2:191069706 [GRCh38]
Chr2:191934432 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.183A>G (p.Leu61=) single nucleotide variant not provided [RCV003882037] Chr2:191146703 [GRCh38]
Chr2:192011429 [GRCh37]
Chr2:2q32.3
likely benign
NM_003151.4(STAT4):c.1259A>T (p.His420Leu) single nucleotide variant not provided [RCV003827887] Chr2:191041141 [GRCh38]
Chr2:191905867 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1570+18G>C single nucleotide variant not provided [RCV003824933] Chr2:191036146 [GRCh38]
Chr2:191900872 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.630+7G>A single nucleotide variant not provided [RCV003687639] Chr2:191066423 [GRCh38]
Chr2:191931149 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1876G>C (p.Glu626Gln) single nucleotide variant not provided [RCV003686640] Chr2:191033126 [GRCh38]
Chr2:191897852 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1434+16A>G single nucleotide variant not provided [RCV003690124] Chr2:191039183 [GRCh38]
Chr2:191903909 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1034+20A>T single nucleotide variant not provided [RCV003549268] Chr2:191061709 [GRCh38]
Chr2:191926435 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.631-17G>T single nucleotide variant not provided [RCV003664094] Chr2:191064975 [GRCh38]
Chr2:191929701 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1886A>G (p.Asn629Ser) single nucleotide variant not provided [RCV003580280] Chr2:191033116 [GRCh38]
Chr2:191897842 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.751C>T (p.Leu251Phe) single nucleotide variant not provided [RCV003673627] Chr2:191064838 [GRCh38]
Chr2:191929564 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.942-6del deletion not provided [RCV003663933] Chr2:191061827 [GRCh38]
Chr2:191926553 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.942-11T>G single nucleotide variant not provided [RCV003665454] Chr2:191061832 [GRCh38]
Chr2:191926558 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.319A>G (p.Asn107Asp) single nucleotide variant not provided [RCV003702880] Chr2:191076280 [GRCh38]
Chr2:191941006 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.2174A>G (p.Tyr725Cys) single nucleotide variant not provided [RCV003579835] Chr2:191031018 [GRCh38]
Chr2:191895744 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.544+7T>G single nucleotide variant not provided [RCV003834595] Chr2:191069686 [GRCh38]
Chr2:191934412 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.482C>T (p.Thr161Ile) single nucleotide variant not provided [RCV003718064]|not specified [RCV004673953] Chr2:191069755 [GRCh38]
Chr2:191934481 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.346T>C (p.Leu116=) single nucleotide variant not provided [RCV003852565] Chr2:191076253 [GRCh38]
Chr2:191940979 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.630+17A>C single nucleotide variant not provided [RCV003835172] Chr2:191066413 [GRCh38]
Chr2:191931139 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.2207C>A (p.Thr736Lys) single nucleotide variant not provided [RCV003673854] Chr2:191030985 [GRCh38]
Chr2:191895711 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1094+16del deletion not provided [RCV003669554] Chr2:191058694 [GRCh38]
Chr2:191923420 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.102G>A (p.Leu34=) single nucleotide variant not provided [RCV003669019] Chr2:191148102 [GRCh38]
Chr2:192012828 [GRCh37]
Chr2:2q32.3
likely benign
NM_003151.4(STAT4):c.949G>A (p.Val317Met) single nucleotide variant not provided [RCV003558074] Chr2:191061814 [GRCh38]
Chr2:191926540 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.160A>G (p.Thr54Ala) single nucleotide variant not provided [RCV003723734] Chr2:191146726 [GRCh38]
Chr2:192011452 [GRCh37]
Chr2:2q32.3
uncertain significance
NM_003151.4(STAT4):c.630G>A (p.Lys210=) single nucleotide variant not provided [RCV003668110] Chr2:191066430 [GRCh38]
Chr2:191931156 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1095-16C>A single nucleotide variant not provided [RCV003832376] Chr2:191058235 [GRCh38]
Chr2:191922961 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1853-5del deletion not provided [RCV003836973] Chr2:191033154 [GRCh38]
Chr2:191897880 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.527A>G (p.Lys176Arg) single nucleotide variant not provided [RCV003815147] Chr2:191069710 [GRCh38]
Chr2:191934436 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1059A>C (p.Leu353=) single nucleotide variant not provided [RCV003836438] Chr2:191058745 [GRCh38]
Chr2:191923471 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.631-15C>A single nucleotide variant not provided [RCV003664165] Chr2:191064973 [GRCh38]
Chr2:191929699 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1722C>G (p.Val574=) single nucleotide variant not provided [RCV003699760] Chr2:191033620 [GRCh38]
Chr2:191898346 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.550A>G (p.Ser184Gly) single nucleotide variant not provided [RCV003548517] Chr2:191066510 [GRCh38]
Chr2:191931236 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1852+9T>G single nucleotide variant not provided [RCV003860656] Chr2:191033481 [GRCh38]
Chr2:191898207 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.861A>G (p.Thr287=) single nucleotide variant not provided [RCV003858249] Chr2:191062842 [GRCh38]
Chr2:191927568 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.924C>T (p.Ile308=) single nucleotide variant not provided [RCV003683156] Chr2:191062779 [GRCh38]
Chr2:191927505 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.615C>T (p.Leu205=) single nucleotide variant not provided [RCV003732663] Chr2:191066445 [GRCh38]
Chr2:191931171 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1571-11T>C single nucleotide variant not provided [RCV003711217] Chr2:191034608 [GRCh38]
Chr2:191899334 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.519C>T (p.Tyr173=) single nucleotide variant not provided [RCV003550727] Chr2:191069718 [GRCh38]
Chr2:191934444 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.14A>G (p.Asn5Ser) single nucleotide variant not provided [RCV003553362] Chr2:191148190 [GRCh38]
Chr2:192012916 [GRCh37]
Chr2:2q32.3
uncertain significance
NM_003151.4(STAT4):c.1035-19dup duplication not provided [RCV003845595] Chr2:191058787..191058788 [GRCh38]
Chr2:191923513..191923514 [GRCh37]
Chr2:2q32.2
benign
NM_003151.4(STAT4):c.671A>C (p.Asp224Ala) single nucleotide variant not provided [RCV003567156] Chr2:191064918 [GRCh38]
Chr2:191929644 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.930C>T (p.Asn310=) single nucleotide variant not provided [RCV003541865] Chr2:191062773 [GRCh38]
Chr2:191927499 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.2172G>T (p.Val724=) single nucleotide variant not provided [RCV003678961] Chr2:191031020 [GRCh38]
Chr2:191895746 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.63C>A (p.Phe21Leu) single nucleotide variant not provided [RCV003704971] Chr2:191148141 [GRCh38]
Chr2:192012867 [GRCh37]
Chr2:2q32.3
uncertain significance
NM_003151.4(STAT4):c.1621-19T>G single nucleotide variant not provided [RCV003568484] Chr2:191034024 [GRCh38]
Chr2:191898750 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1620+20C>A single nucleotide variant not provided [RCV003865573] Chr2:191034528 [GRCh38]
Chr2:191899254 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1045A>C (p.Lys349Gln) single nucleotide variant not provided [RCV003682866] Chr2:191058759 [GRCh38]
Chr2:191923485 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1852+6T>C single nucleotide variant not provided [RCV003728181] Chr2:191033484 [GRCh38]
Chr2:191898210 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1512G>A (p.Ser504=) single nucleotide variant not provided [RCV003841834] Chr2:191036222 [GRCh38]
Chr2:191900948 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.942-1G>C single nucleotide variant not provided [RCV003867485] Chr2:191061822 [GRCh38]
Chr2:191926548 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1483C>T (p.Leu495=) single nucleotide variant not provided [RCV003728344] Chr2:191036251 [GRCh38]
Chr2:191900977 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.274-14G>T single nucleotide variant not provided [RCV003869023] Chr2:191076339 [GRCh38]
Chr2:191941065 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1680A>G (p.Leu560=) single nucleotide variant not provided [RCV003680871] Chr2:191033946 [GRCh38]
Chr2:191898672 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.469A>G (p.Thr157Ala) single nucleotide variant not provided [RCV003719629] Chr2:191069768 [GRCh38]
Chr2:191934494 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1336-9C>A single nucleotide variant not provided [RCV003709242] Chr2:191039306 [GRCh38]
Chr2:191904032 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1758_1759delinsTT (p.Leu586Phe) indel not provided [RCV003683642] Chr2:191033583..191033584 [GRCh38]
Chr2:191898309..191898310 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.291T>A (p.Asn97Lys) single nucleotide variant not provided [RCV003556887] Chr2:191076308 [GRCh38]
Chr2:191941034 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.470C>G (p.Thr157Arg) single nucleotide variant not provided [RCV003542128] Chr2:191069767 [GRCh38]
Chr2:191934493 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1761A>G (p.Leu587=) single nucleotide variant not provided [RCV003568796] Chr2:191033581 [GRCh38]
Chr2:191898307 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.763C>T (p.Leu255Phe) single nucleotide variant not provided [RCV003730789] Chr2:191064826 [GRCh38]
Chr2:191929552 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1790T>C (p.Leu597Ser) single nucleotide variant Disabling pansclerotic morphea of childhood [RCV004558218]|not provided [RCV003732690] Chr2:191033552 [GRCh38]
Chr2:191898278 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1452T>C (p.Asn484=) single nucleotide variant not provided [RCV003864095] Chr2:191036282 [GRCh38]
Chr2:191901008 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1413C>T (p.Asn471=) single nucleotide variant not provided [RCV003866140] Chr2:191039220 [GRCh38]
Chr2:191903946 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.2044+18_2044+21del microsatellite not provided [RCV003844495] Chr2:191032937..191032940 [GRCh38]
Chr2:191897663..191897666 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.2112-16T>G single nucleotide variant not provided [RCV003853970] Chr2:191031096 [GRCh38]
Chr2:191895822 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1930G>A (p.Asp644Asn) single nucleotide variant not provided [RCV003679262] Chr2:191033072 [GRCh38]
Chr2:191897798 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.240A>T (p.Ile80=) single nucleotide variant not provided [RCV003564233] Chr2:191146646 [GRCh38]
Chr2:192011372 [GRCh37]
Chr2:2q32.3
likely benign
NM_003151.4(STAT4):c.1043T>C (p.Ile348Thr) single nucleotide variant not provided [RCV003707973] Chr2:191058761 [GRCh38]
Chr2:191923487 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1411A>C (p.Asn471His) single nucleotide variant not provided [RCV003858893] Chr2:191039222 [GRCh38]
Chr2:191903948 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.2112-17C>G single nucleotide variant not provided [RCV003709835] Chr2:191031097 [GRCh38]
Chr2:191895823 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.703C>T (p.Leu235=) single nucleotide variant not provided [RCV003553786] Chr2:191064886 [GRCh38]
Chr2:191929612 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1113-15A>T single nucleotide variant not provided [RCV003553787] Chr2:191058126 [GRCh38]
Chr2:191922852 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.2151T>G (p.Leu717=) single nucleotide variant not provided [RCV003731721] Chr2:191031041 [GRCh38]
Chr2:191895767 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.1570+1G>A single nucleotide variant not provided [RCV003861794] Chr2:191036163 [GRCh38]
Chr2:191900889 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.129-3dup duplication STAT4-related disorder [RCV003982228] Chr2:191146759..191146760 [GRCh38]
Chr2:192011485..192011486 [GRCh37]
Chr2:2q32.3
benign
NM_003151.4(STAT4):c.436A>C (p.Lys146Gln) single nucleotide variant not specified [RCV004465510] Chr2:191073127 [GRCh38]
Chr2:191937853 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.590C>A (p.Thr197Lys) single nucleotide variant not specified [RCV004465511] Chr2:191066470 [GRCh38]
Chr2:191931196 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.662A>G (p.His221Arg) single nucleotide variant not specified [RCV004465512] Chr2:191064927 [GRCh38]
Chr2:191929653 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1873G>A (p.Val625Ile) single nucleotide variant not specified [RCV004465509] Chr2:191033129 [GRCh38]
Chr2:191897855 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1641A>G (p.Ser547=) single nucleotide variant not provided [RCV004575975] Chr2:191033985 [GRCh38]
Chr2:191898711 [GRCh37]
Chr2:2q32.2
likely benign
NM_003151.4(STAT4):c.305C>G (p.Ala102Gly) single nucleotide variant not specified [RCV004681639] Chr2:191076294 [GRCh38]
Chr2:191941020 [GRCh37]
Chr2:2q32.2
uncertain significance
NM_003151.4(STAT4):c.1516G>A (p.Val506Ile) single nucleotide variant STAT4-related disorder [RCV004751110] Chr2:191036218 [GRCh38]
Chr2:191900944 [GRCh37]
Chr2:2q32.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1003
Count of miRNA genes:637
Interacting mature miRNAs:702
Transcripts:ENST00000358470, ENST00000392320, ENST00000409995, ENST00000413064, ENST00000432798, ENST00000450994, ENST00000463951, ENST00000470708, ENST00000495326, ENST00000495849
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
597467037GWAS1563111_Hrheumatoid arthritis QTL GWAS1563111 (human)4e-17rheumatoid arthritis2191068528191068529Human
597019540GWAS1115614_Hsystemic lupus erythematosus QTL GWAS1115614 (human)7e-13systemic lupus erythematosus2191079016191079017Human
596979860GWAS1099379_Hhypothyroidism QTL GWAS1099379 (human)1e-43hypothyroidism2191099907191099908Human
406909508GWAS558484_Hsystemic lupus erythematosus QTL GWAS558484 (human)4e-14systemic lupus erythematosus2191099907191099908Human
597205919GWAS1301993_HAutoimmune Hepatitis QTL GWAS1301993 (human)0.0000001Autoimmune Hepatitis2191079016191079017Human
597062810GWAS1158884_HSjogren syndrome QTL GWAS1158884 (human)9e-10Sjogren syndrome2191079016191079017Human
597278359GWAS1374433_Hrheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement QTL GWAS1374433 (human)6e-15rheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement2191079016191079017Human
406910798GWAS559774_Hsystemic lupus erythematosus QTL GWAS559774 (human)9e-14systemic lupus erythematosus2191099907191099908Human
597065881GWAS1161955_Hprimary biliary cirrhosis QTL GWAS1161955 (human)9e-25primary biliary cirrhosis2191099907191099908Human
597065861GWAS1161935_Hprimary biliary cirrhosis QTL GWAS1161935 (human)5e-18primary biliary cirrhosis2191099907191099908Human
597212812GWAS1308886_Hceliac disease QTL GWAS1308886 (human)7e-09celiac disease2191037458191037459Human
597522313GWAS1618387_HB-cell acute lymphoblastic leukemia, rheumatoid arthritis QTL GWAS1618387 (human)2e-08leukocyte integrity trait (VT:0010898)2191068557191068558Human
597065859GWAS1161933_Hprimary biliary cirrhosis QTL GWAS1161933 (human)1e-13primary biliary cirrhosis2191099907191099908Human
597066115GWAS1162189_Hsystemic juvenile idiopathic arthritis, polyarticular juvenile idiopathic arthritis, rheumatoid factor negative, oligoarticular juvenile idiopathic arthritis QTL GWAS1162189 (human)1e-13systemic juvenile idiopathic arthritis, polyarticular juvenile idiopathic arthritis, rheumatoid factor negative, oligoarticular juvenile idiopathic arthritis2191108308191108309Human
597613448GWAS1670308_Hautoimmune disorder of musculoskeletal system QTL GWAS1670308 (human)1e-11autoimmune disorder of musculoskeletal system2191093930191093931Human
407028571GWAS677547_Hbiliary liver cirrhosis QTL GWAS677547 (human)0.000001Autoimmune Hepatitis2191099907191099908Human
597330817GWAS1426891_Hrheumatoid arthritis, hypothyroidism QTL GWAS1426891 (human)2e-19rheumatoid arthritis, hypothyroidism2191049073191049074Human
597150603GWAS1246677_Hmyositis QTL GWAS1246677 (human)1e-08myositis2191052591191052592Human
597068426GWAS1164500_Hprimary biliary cirrhosis QTL GWAS1164500 (human)4e-13primary biliary cirrhosis2191071078191071079Human
597205638GWAS1301712_Hrheumatoid arthritis QTL GWAS1301712 (human)4e-30rheumatoid arthritis2191079016191079017Human
406909539GWAS558515_Hsystemic scleroderma, systemic lupus erythematosus QTL GWAS558515 (human)3e-11systemic scleroderma, systemic lupus erythematosus2191075725191075726Human
597169597GWAS1265671_Hrheumatoid arthritis QTL GWAS1265671 (human)4e-09rheumatoid arthritis2191090463191090464Human
597254078GWAS1350152_Htype 1 diabetes mellitus QTL GWAS1350152 (human)3e-09type 1 diabetes mellitus2191105394191105395Human
596952252GWAS1071771_Hautoimmune disease QTL GWAS1071771 (human)3e-09autoimmune disease2191099907191099908Human
597254576GWAS1350650_Hsystemic lupus erythematosus QTL GWAS1350650 (human)1e-10systemic lupus erythematosus2191075725191075726Human
406910057GWAS559033_Hsystemic lupus erythematosus QTL GWAS559033 (human)1e-21systemic lupus erythematosus2191099907191099908Human
597033404GWAS1129478_Hsystemic scleroderma, rheumatoid arthritis, myositis, systemic lupus erythematosus QTL GWAS1129478 (human)3e-42systemic scleroderma, rheumatoid arthritis, myositis, systemic lupus erythematosus2191108308191108309Human
597071549GWAS1167623_Hrheumatoid arthritis QTL GWAS1167623 (human)2e-13rheumatoid arthritis2191105153191105154Human
597590706GWAS1647566_Hhypothyroidism QTL GWAS1647566 (human)7e-17hypothyroidism2191094763191094764Human
597293237GWAS1389311_Hautoimmune thyroid disease QTL GWAS1389311 (human)7e-31autoimmune thyroid disease2191101726191101727Human
597391030GWAS1487104_Hsystemic scleroderma, rheumatoid arthritis, myositis, systemic lupus erythematosus QTL GWAS1487104 (human)3e-17systemic scleroderma, rheumatoid arthritis, myositis, systemic lupus erythematosus2191068557191068558Human
597067430GWAS1163504_Hlimited scleroderma QTL GWAS1163504 (human)1e-11limited scleroderma2191108308191108309Human
597309099GWAS1405173_HStuttering QTL GWAS1405173 (human)0.000004Stuttering2191041855191041856Human
597238699GWAS1334773_Hsystemic lupus erythematosus QTL GWAS1334773 (human)2e-12systemic lupus erythematosus2191099907191099908Human
407113590GWAS762566_Heosinophil count QTL GWAS762566 (human)7e-09eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)2191108308191108309Human
597067425GWAS1163499_Hlimited scleroderma QTL GWAS1163499 (human)2e-08limited scleroderma2191057148191057149Human
597037985GWAS1134059_Hrheumatoid arthritis QTL GWAS1134059 (human)6e-12rheumatoid arthritis2191079016191079017Human
597163948GWAS1260022_Hsystemic lupus erythematosus QTL GWAS1260022 (human)6e-13systemic lupus erythematosus2191090463191090464Human
597055149GWAS1151223_Heosinophil count QTL GWAS1151223 (human)2e-09eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)2191108837191108838Human
597163947GWAS1260021_HSjogren syndrome QTL GWAS1260021 (human)7e-12Sjogren syndrome2191079016191079017Human
597067434GWAS1163508_Hanti-centromere-antibody-positive systemic scleroderma QTL GWAS1163508 (human)2e-09anti-centromere-antibody-positive systemic scleroderma2191108308191108309Human
407048707GWAS697683_Hsystemic scleroderma QTL GWAS697683 (human)2e-13systemic scleroderma2191099907191099908Human
597065943GWAS1162017_Hprimary biliary cirrhosis QTL GWAS1162017 (human)3e-18primary biliary cirrhosis2191078546191078547Human
597520857GWAS1616931_Hrheumatoid arthritis, hypothyroidism QTL GWAS1616931 (human)4e-22rheumatoid arthritis, hypothyroidism2191068557191068558Human
597066450GWAS1162524_HSjogren syndrome QTL GWAS1162524 (human)7e-15Sjogren syndrome2191090463191090464Human
597184989GWAS1281063_Hsystemic scleroderma QTL GWAS1281063 (human)1e-09systemic scleroderma2191075725191075726Human
596969170GWAS1088689_Hsystemic lupus erythematosus QTL GWAS1088689 (human)7e-08systemic lupus erythematosus2191093930191093931Human
597062364GWAS1158438_Hsystemic lupus erythematosus QTL GWAS1158438 (human)2e-76systemic lupus erythematosus2191079016191079017Human
597278165GWAS1374239_Hrheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement QTL GWAS1374239 (human)2e-09rheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement2191079016191079017Human
407050515GWAS699491_HSjogren syndrome QTL GWAS699491 (human)2e-17Sjogren syndrome2191071078191071079Human
597270475GWAS1366549_Hrheumatoid arthritis, ACPA-positive rheumatoid arthritis, rheumatoid factor seropositivity measurement QTL GWAS1366549 (human)2e-09rheumatoid arthritis, ACPA-positive rheumatoid arthritis, rheumatoid factor seropositivity measurement2191073180191073181Human
597330632GWAS1426706_Hrheumatoid arthritis, hypothyroidism QTL GWAS1426706 (human)3e-27rheumatoid arthritis, hypothyroidism2191106839191106840Human
406909204GWAS558180_Hsystemic lupus erythematosus QTL GWAS558180 (human)4e-22systemic lupus erythematosus2191079016191079017Human
597254348GWAS1350422_Hsystemic lupus erythematosus QTL GWAS1350422 (human)5e-10systemic lupus erythematosus2191047814191047815Human
597278156GWAS1374230_Hrheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement QTL GWAS1374230 (human)2e-26rheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement2191079016191079017Human
597062851GWAS1158925_HSjogren syndrome QTL GWAS1158925 (human)2e-08Sjogren syndrome2191099907191099908Human
597270735GWAS1366809_Hrheumatoid arthritis, ACPA-positive rheumatoid arthritis, rheumatoid factor seropositivity measurement QTL GWAS1366809 (human)5e-14rheumatoid arthritis, ACPA-positive rheumatoid arthritis, rheumatoid factor seropositivity measurement2191094763191094764Human
597270734GWAS1366808_Hrheumatoid arthritis, ACPA-positive rheumatoid arthritis, rheumatoid factor seropositivity measurement QTL GWAS1366808 (human)5e-14rheumatoid arthritis, ACPA-positive rheumatoid arthritis, rheumatoid factor seropositivity measurement2191079016191079017Human
597072590GWAS1168664_Hmultiple sclerosis QTL GWAS1168664 (human)4e-12multiple sclerosis2191109709191109710Human
597310150GWAS1406224_HImmunosuppressant use measurement QTL GWAS1406224 (human)2e-13Immunosuppressant use measurement2191105394191105395Human
597164997GWAS1261071_Hrheumatoid arthritis QTL GWAS1261071 (human)3e-17rheumatoid arthritis2191079016191079017Human
597190904GWAS1286978_Hsystemic lupus erythematosus QTL GWAS1286978 (human)1e-160systemic lupus erythematosus2191071078191071079Human
597062390GWAS1158464_Hsystemic lupus erythematosus QTL GWAS1158464 (human)9e-17systemic lupus erythematosus2191081596191081597Human
597164792GWAS1260866_HGraves disease QTL GWAS1260866 (human)9e-09Graves disease2191089272191089273Human
597270520GWAS1366594_Hrheumatoid arthritis, ACPA-negative rheumatoid arthritis QTL GWAS1366594 (human)0.000002rheumatoid arthritis, ACPA-negative rheumatoid arthritis2191079016191079017Human
597190907GWAS1286981_Hsystemic lupus erythematosus QTL GWAS1286981 (human)7e-77systemic lupus erythematosus2191089138191089139Human
597049843GWAS1145917_Hmyositis QTL GWAS1145917 (human)0.000002myositis2191052591191052592Human
597113073GWAS1209147_Hsystemic lupus erythematosus QTL GWAS1209147 (human)6e-16systemic lupus erythematosus2191079016191079017Human
597330429GWAS1426503_Hrheumatoid arthritis, hypothyroidism QTL GWAS1426503 (human)9e-33rheumatoid arthritis, hypothyroidism2191048916191048917Human
597075962GWAS1172036_HVitiligo QTL GWAS1172036 (human)0.0000003Vitiligo2191090479191090480Human
597213428GWAS1309502_Hrheumatoid arthritis QTL GWAS1309502 (human)9e-08rheumatoid arthritis2191099907191099908Human
597185000GWAS1281074_Hanti-centromere-antibody-positive systemic scleroderma QTL GWAS1281074 (human)4e-10anti-centromere-antibody-positive systemic scleroderma2191105394191105395Human
597019620GWAS1115694_Hsystemic scleroderma QTL GWAS1115694 (human)3e-12systemic scleroderma2191057148191057149Human
406910002GWAS558978_Hsystemic lupus erythematosus QTL GWAS558978 (human)5e-09systemic lupus erythematosus2191099907191099908Human
597028838GWAS1124912_Hrheumatoid arthritis QTL GWAS1124912 (human)6e-09rheumatoid arthritis2191079016191079017Human
597122020GWAS1218094_Hrheumatoid arthritis, ulcerative colitis QTL GWAS1218094 (human)0.0000002rheumatoid arthritis, ulcerative colitis2191079016191079017Human
406910516GWAS559492_Hsystemic lupus erythematosus QTL GWAS559492 (human)0.000008systemic lupus erythematosus2191099907191099908Human
407028020GWAS676996_Hhepatocellular carcinoma QTL GWAS676996 (human)2e-10liver integrity trait (VT:0010547)2191099907191099908Human
597184993GWAS1281067_Hsystemic scleroderma QTL GWAS1281067 (human)3e-20systemic scleroderma2191079016191079017Human
407028024GWAS677000_HBehcet's syndrome QTL GWAS677000 (human)1e-09Behcet's syndrome2191145762191145763Human
597461216GWAS1557290_Hrheumatoid arthritis QTL GWAS1557290 (human)7e-10rheumatoid arthritis2191068528191068529Human
597593826GWAS1650686_Heosinophil count QTL GWAS1650686 (human)9e-12eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)2191104615191104616Human
597184997GWAS1281071_Hlimited scleroderma QTL GWAS1281071 (human)5e-12limited scleroderma2191079016191079017Human
597299940GWAS1396014_Hprimary biliary cirrhosis QTL GWAS1396014 (human)3e-31primary biliary cirrhosis2191079016191079017Human
406961856GWAS610832_Hrheumatoid arthritis QTL GWAS610832 (human)2e-08rheumatoid arthritis2191079016191079017Human
597092629GWAS1188703_HCrohn's disease QTL GWAS1188703 (human)1e-10intestine integrity trait (VT:0010554)2191066738191066739Human
597213212GWAS1309286_Hautoimmune disease QTL GWAS1309286 (human)4e-08autoimmune disease2191037458191037459Human
597184796GWAS1280870_Hsystemic scleroderma QTL GWAS1280870 (human)2e-35systemic scleroderma2191094763191094764Human
406952137GWAS601113_Hrheumatoid arthritis, celiac disease QTL GWAS601113 (human)7e-11rheumatoid arthritis, celiac disease2191037458191037459Human
597101853GWAS1197927_Hsystemic scleroderma QTL GWAS1197927 (human)2e-23systemic scleroderma2191038032191038033Human
596989214GWAS1108733_Hautoimmune thyroid disease QTL GWAS1108733 (human)7e-31autoimmune thyroid disease2191101726191101727Human
597060893GWAS1156967_Hhypothyroidism QTL GWAS1156967 (human)3e-39hypothyroidism2191105394191105395Human
407060430GWAS709406_Hinflammatory bowel disease QTL GWAS709406 (human)3e-11inflammatory bowel disease2191066738191066739Human
406910416GWAS559392_Hsystemic lupus erythematosus QTL GWAS559392 (human)5e-42systemic lupus erythematosus2191099907191099908Human
596957701GWAS1077220_Hthyroid peroxidase antibody measurement QTL GWAS1077220 (human)1e-10thyroid peroxidase antibody measurement2191104615191104616Human
597106693GWAS1202767_Hsystemic lupus erythematosus QTL GWAS1202767 (human)5e-123systemic lupus erythematosus2191079016191079017Human
597118724GWAS1214798_Hjuvenile idiopathic arthritis QTL GWAS1214798 (human)2e-19juvenile idiopathic arthritis2191079016191079017Human
597242890GWAS1338964_Hthyroid peroxidase antibody measurement QTL GWAS1338964 (human)1e-10thyroid peroxidase antibody measurement2191104615191104616Human
597267469GWAS1363543_Hrheumatoid arthritis QTL GWAS1363543 (human)3e-19rheumatoid arthritis2191094763191094764Human
407000791GWAS649767_Hsystemic scleroderma QTL GWAS649767 (human)5e-10systemic scleroderma2191099907191099908Human
597270529GWAS1366603_Hrheumatoid arthritis, ACPA-negative rheumatoid arthritis QTL GWAS1366603 (human)0.000001rheumatoid arthritis, ACPA-negative rheumatoid arthritis2191094763191094764Human
407050970GWAS699946_Hrheumatoid arthritis QTL GWAS699946 (human)0.000002rheumatoid arthritis2191099907191099908Human
406908378GWAS557354_Hsystemic lupus erythematosus QTL GWAS557354 (human)2e-19systemic lupus erythematosus2191089272191089273Human
407000792GWAS649768_Hsystemic scleroderma QTL GWAS649768 (human)0.0000004systemic scleroderma2191099907191099908Human
406910431GWAS559407_Hsystemic lupus erythematosus QTL GWAS559407 (human)2e-20systemic lupus erythematosus2191099907191099908Human
406965219GWAS614195_Hrheumatoid arthritis QTL GWAS614195 (human)4e-19rheumatoid arthritis2191079016191079017Human
597587260GWAS1644120_Hthyroid disease, drug use measurement QTL GWAS1644120 (human)2e-13thyroid disease, drug use measurement2191094763191094764Human
597057077GWAS1153151_Hmultiple sclerosis QTL GWAS1153151 (human)2e-13multiple sclerosis2191124630191124631Human
407024868GWAS673844_Hsystemic scleroderma QTL GWAS673844 (human)3e-09systemic scleroderma2191038032191038033Human
407057637GWAS706613_Hsystemic scleroderma QTL GWAS706613 (human)9e-08systemic scleroderma2191038032191038033Human
597098033GWAS1194107_Hsystemic lupus erythematosus QTL GWAS1194107 (human)0.0000004systemic lupus erythematosus2191105394191105395Human
597374770GWAS1470844_HBehcet's syndrome QTL GWAS1470844 (human)4e-08Behcet's syndrome2191150346191150347Human
597161789GWAS1257863_HImmunosuppressant use measurement QTL GWAS1257863 (human)2e-08Immunosuppressant use measurement2191090463191090464Human
597048380GWAS1144454_Hautoimmune disease QTL GWAS1144454 (human)2e-24autoimmune disease2191101726191101727Human
597121596GWAS1217670_Hrheumatoid arthritis, Crohn's disease QTL GWAS1217670 (human)0.0000002intestine integrity trait (VT:0010554)2191089272191089273Human
597043003GWAS1139077_Hprimary biliary cirrhosis QTL GWAS1139077 (human)5e-11primary biliary cirrhosis2191078546191078547Human
597190711GWAS1286785_Hsystemic lupus erythematosus QTL GWAS1286785 (human)3e-34systemic lupus erythematosus2191108837191108838Human
597112871GWAS1208945_Hsystemic lupus erythematosus QTL GWAS1208945 (human)1e-77systemic lupus erythematosus2191101726191101727Human
406909169GWAS558145_Hsystemic lupus erythematosus QTL GWAS558145 (human)1e-65systemic lupus erythematosus2191079016191079017Human
597300526GWAS1396600_Hprimary biliary cirrhosis QTL GWAS1396600 (human)2e-12primary biliary cirrhosis2191079016191079017Human
597092143GWAS1188217_Hinflammatory bowel disease QTL GWAS1188217 (human)4e-14inflammatory bowel disease2191066738191066739Human
597164324GWAS1260398_Hhypothyroidism QTL GWAS1260398 (human)2e-29hypothyroidism2191099907191099908Human
597062441GWAS1158515_Hsystemic lupus erythematosus QTL GWAS1158515 (human)6e-122systemic lupus erythematosus2191079016191079017Human
407025661GWAS674637_Himmune system disease QTL GWAS674637 (human)4e-10immune system disease2191099907191099908Human
597064786GWAS1160860_Hceliac disease QTL GWAS1160860 (human)8e-09celiac disease2191048308191048309Human
597087827GWAS1183901_Hrheumatoid arthritis QTL GWAS1183901 (human)3e-13rheumatoid arthritis2191079016191079017Human
597237340GWAS1333414_Hsystemic scleroderma QTL GWAS1333414 (human)4e-12systemic scleroderma2191099907191099908Human
597064787GWAS1160861_Hceliac disease QTL GWAS1160861 (human)0.000001celiac disease2191108837191108838Human
597590617GWAS1647477_Hhypothyroidism QTL GWAS1647477 (human)1e-16hypothyroidism2191104615191104616Human
597275476GWAS1371550_Hrheumatoid arthritis QTL GWAS1371550 (human)2e-31rheumatoid arthritis2191079016191079017Human
597281876GWAS1377950_Hhypothyroidism QTL GWAS1377950 (human)4e-41hypothyroidism2191101726191101727Human
597073752GWAS1169826_Hsystemic lupus erythematosus QTL GWAS1169826 (human)1e-41systemic lupus erythematosus2191099907191099908Human
597280584GWAS1376658_Hrheumatoid arthritis QTL GWAS1376658 (human)1e-16rheumatoid arthritis2191079016191079017Human
597067333GWAS1163407_Hlimited scleroderma QTL GWAS1163407 (human)8e-08limited scleroderma2191108308191108309Human
597466692GWAS1562766_Hrheumatoid arthritis QTL GWAS1562766 (human)8e-09rheumatoid arthritis2191068528191068529Human
597164096GWAS1260170_HHashimoto's thyroiditis QTL GWAS1260170 (human)7e-11Hashimoto's thyroiditis2191079016191079017Human
597092682GWAS1188756_Hulcerative colitis QTL GWAS1188756 (human)2e-09ulcerative colitis2191066738191066739Human
597110857GWAS1206931_HThyroid preparation use measurement QTL GWAS1206931 (human)3e-39Thyroid preparation use measurement2191079016191079017Human
597103478GWAS1199552_Hrheumatoid arthritis QTL GWAS1199552 (human)1e-09rheumatoid arthritis2191090463191090464Human
597118069GWAS1214143_Hsystemic lupus erythematosus QTL GWAS1214143 (human)4e-69systemic lupus erythematosus2191105394191105395Human
597587069GWAS1643929_Hthyroid disease QTL GWAS1643929 (human)5e-12thyroid disease2191094763191094764Human
597081970GWAS1178044_Hautoimmune thyroid disease QTL GWAS1178044 (human)5e-39autoimmune thyroid disease2191101726191101727Human
597067379GWAS1163453_Hsystemic scleroderma QTL GWAS1163453 (human)5e-13systemic scleroderma2191108308191108309Human
597511543GWAS1607617_Hsystemic lupus erythematosus, COVID-19 QTL GWAS1607617 (human)1e-08systemic lupus erythematosus, COVID-192191031838191031839Human
597111933GWAS1208007_Hsystemic lupus erythematosus QTL GWAS1208007 (human)8e-16systemic lupus erythematosus2191105394191105395Human
597264244GWAS1360318_Hesophageal squamous cell carcinoma QTL GWAS1360318 (human)0.0000009esophageal squamous cell carcinoma2191052644191052645Human
597067385GWAS1163459_Hsystemic scleroderma QTL GWAS1163459 (human)4e-11systemic scleroderma2191057148191057149Human
597213815GWAS1309889_Hsystemic scleroderma QTL GWAS1309889 (human)0.0000003systemic scleroderma2191099907191099908Human
597028967GWAS1125041_Hrheumatoid arthritis QTL GWAS1125041 (human)5e-20rheumatoid arthritis2191079016191079017Human
597266538GWAS1362612_Hsystemic lupus erythematosus QTL GWAS1362612 (human)7e-08systemic lupus erythematosus2191093930191093931Human
406910900GWAS559876_Hsystemic lupus erythematosus QTL GWAS559876 (human)8e-11systemic lupus erythematosus2191038032191038033Human
597065827GWAS1161901_Hprimary biliary cirrhosis QTL GWAS1161901 (human)3e-09autoimmune disease2191099907191099908Human
597312111GWAS1408185_HThyroid preparation use measurement QTL GWAS1408185 (human)1e-42Thyroid preparation use measurement2191105394191105395Human
597199983GWAS1296057_HB-cell acute lymphoblastic leukemia, hypothyroidism QTL GWAS1296057 (human)2e-10leukocyte integrity trait (VT:0010898)2191093855191093856Human
406952118GWAS601094_Hceliac disease QTL GWAS601094 (human)3e-08celiac disease2191105604191105605Human
597280099GWAS1376173_Hhypothyroidism QTL GWAS1376173 (human)1e-43hypothyroidism2191099907191099908Human
597077613GWAS1173687_Hnon-typhoidal Salmonella bacteremia QTL GWAS1173687 (human)9e-10non-typhoidal Salmonella bacteremia2191090090191090091Human
406961855GWAS610831_Hrheumatoid arthritis QTL GWAS610831 (human)1e-12rheumatoid arthritis2191079016191079017Human
597073001GWAS1169075_Hrheumatoid arthritis QTL GWAS1169075 (human)2e-11rheumatoid arthritis2191057148191057149Human

Markers in Region
RH17878  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372191,894,403 - 191,894,569UniSTSGRCh37
Build 362191,602,648 - 191,602,814RGDNCBI36
Celera2185,489,005 - 185,489,171RGD
Cytogenetic Map2q32.2-q32.3UniSTS
HuRef2183,754,057 - 183,754,223UniSTS
GeneMap99-GB4 RH Map2603.26UniSTS
NCBI RH Map21500.6UniSTS
RH120206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372191,902,427 - 191,902,742UniSTSGRCh37
Build 362191,610,672 - 191,610,987RGDNCBI36
Celera2185,497,029 - 185,497,344RGD
Cytogenetic Map2q32.2-q32.3UniSTS
HuRef2183,762,081 - 183,762,396UniSTS
TNG Radiation Hybrid Map2105897.0UniSTS
PMC55319P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372191,897,693 - 191,897,843UniSTSGRCh37
Build 362191,605,938 - 191,606,088RGDNCBI36
Celera2185,492,295 - 185,492,445RGD
Cytogenetic Map2q32.2-q32.3UniSTS
HuRef2183,757,347 - 183,757,497UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2412 2787 2232 4923 1721 2328 4 621 1876 464 2243 7208 6393 50 3713 846 1729 1596 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB111353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC067945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF423072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX354560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF966132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC306142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC399230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ003482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU304788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU304789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU304790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU304791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU304792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU304793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L78440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC461693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF781077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000358470   ⟹   ENSP00000351255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2191,029,576 - 191,151,590 (-)Ensembl
Ensembl Acc Id: ENST00000392320   ⟹   ENSP00000376134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2191,029,576 - 191,150,994 (-)Ensembl
Ensembl Acc Id: ENST00000409995   ⟹   ENSP00000386288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2191,131,491 - 191,150,971 (-)Ensembl
Ensembl Acc Id: ENST00000413064   ⟹   ENSP00000403238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2191,029,576 - 191,151,560 (-)Ensembl
Ensembl Acc Id: ENST00000432798   ⟹   ENSP00000414322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2191,029,576 - 191,151,595 (-)Ensembl
Ensembl Acc Id: ENST00000450994   ⟹   ENSP00000412397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2191,029,576 - 191,151,596 (-)Ensembl
Ensembl Acc Id: ENST00000463951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2191,031,208 - 191,033,607 (-)Ensembl
Ensembl Acc Id: ENST00000470708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2191,036,178 - 191,041,683 (-)Ensembl
Ensembl Acc Id: ENST00000495326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2191,076,024 - 191,151,015 (-)Ensembl
Ensembl Acc Id: ENST00000495849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2191,032,862 - 191,151,013 (-)Ensembl
Ensembl Acc Id: ENST00000647167   ⟹   ENSP00000495153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2191,066,430 - 191,151,555 (-)Ensembl
Ensembl Acc Id: ENST00000714286   ⟹   ENSP00000519566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2191,029,578 - 191,173,446 (-)Ensembl
Ensembl Acc Id: ENST00000714287   ⟹   ENSP00000519567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2191,029,578 - 191,173,446 (-)Ensembl
Ensembl Acc Id: ENST00000714288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2191,153,441 - 191,177,990 (-)Ensembl
Ensembl Acc Id: ENST00000714335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2191,173,833 - 191,177,988 (-)Ensembl
Ensembl Acc Id: ENST00000714336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2191,176,563 - 191,178,435 (-)Ensembl
RefSeq Acc Id: NM_001243835   ⟹   NP_001230764
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382191,029,576 - 191,151,596 (-)NCBI
HuRef2183,753,956 - 183,875,743 (-)NCBI
CHM1_12191,900,128 - 192,022,113 (-)NCBI
T2T-CHM13v2.02191,518,699 - 191,640,702 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003151   ⟹   NP_003142
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382191,029,576 - 191,150,994 (-)NCBI
GRCh372191,894,302 - 192,037,404 (-)NCBI
Build 362191,602,551 - 191,724,170 (-)NCBI Archive
HuRef2183,753,956 - 183,875,743 (-)NCBI
CHM1_12191,900,128 - 192,021,777 (-)NCBI
T2T-CHM13v2.02191,518,699 - 191,640,100 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712719   ⟹   XP_006712782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382191,029,576 - 191,150,994 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047445603   ⟹   XP_047301559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382191,029,576 - 191,151,596 (-)NCBI
RefSeq Acc Id: XM_047445604   ⟹   XP_047301560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382191,029,576 - 191,151,596 (-)NCBI
RefSeq Acc Id: XM_054343561   ⟹   XP_054199536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02191,518,699 - 191,663,236 (-)NCBI
RefSeq Acc Id: XM_054343562   ⟹   XP_054199537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02191,518,699 - 191,640,702 (-)NCBI
RefSeq Acc Id: XM_054343563   ⟹   XP_054199538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02191,518,699 - 191,640,702 (-)NCBI
RefSeq Acc Id: XM_054343564   ⟹   XP_054199539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02191,518,699 - 191,648,596 (-)NCBI
RefSeq Acc Id: XM_054343565   ⟹   XP_054199540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02191,518,699 - 191,662,437 (-)NCBI
RefSeq Acc Id: XM_054343566   ⟹   XP_054199541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02191,518,699 - 191,645,869 (-)NCBI
RefSeq Acc Id: XM_054343567   ⟹   XP_054199542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02191,527,956 - 191,637,310 (-)NCBI
RefSeq Acc Id: XM_054343568   ⟹   XP_054199543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02191,543,420 - 191,637,310 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001230764 (Get FASTA)   NCBI Sequence Viewer  
  NP_003142 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712782 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301559 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301560 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199536 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199537 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199538 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199539 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199540 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199541 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199542 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199543 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB05605 (Get FASTA)   NCBI Sequence Viewer  
  AAH31212 (Get FASTA)   NCBI Sequence Viewer  
  AAL12164 (Get FASTA)   NCBI Sequence Viewer  
  AAY15055 (Get FASTA)   NCBI Sequence Viewer  
  AAY24184 (Get FASTA)   NCBI Sequence Viewer  
  ACA01857 (Get FASTA)   NCBI Sequence Viewer  
  ACA01858 (Get FASTA)   NCBI Sequence Viewer  
  ACA01859 (Get FASTA)   NCBI Sequence Viewer  
  ACA01860 (Get FASTA)   NCBI Sequence Viewer  
  ACA01861 (Get FASTA)   NCBI Sequence Viewer  
  ACA01862 (Get FASTA)   NCBI Sequence Viewer  
  ATE87180 (Get FASTA)   NCBI Sequence Viewer  
  BAD92280 (Get FASTA)   NCBI Sequence Viewer  
  BAG61799 (Get FASTA)   NCBI Sequence Viewer  
  BAG62516 (Get FASTA)   NCBI Sequence Viewer  
  BAG62759 (Get FASTA)   NCBI Sequence Viewer  
  BBJ35454 (Get FASTA)   NCBI Sequence Viewer  
  CAD22977 (Get FASTA)   NCBI Sequence Viewer  
  EAX10846 (Get FASTA)   NCBI Sequence Viewer  
  EAX10847 (Get FASTA)   NCBI Sequence Viewer  
  EAX10848 (Get FASTA)   NCBI Sequence Viewer