CD40LG (CD40 ligand) - Rat Genome Database

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Gene: CD40LG (CD40 ligand) Homo sapiens
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Symbol: CD40LG
Name: CD40 ligand
RGD ID: 1352959
HGNC Page HGNC:11935
Description: Enables CD40 receptor binding activity; integrin binding activity; and protein serine/threonine kinase activator activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of cytokine production; and regulation of apoptotic process. Located in Golgi apparatus; cell surface; and plasma membrane. Implicated in several diseases, including Kawasaki disease; autoimmune disease (multiple); combined T cell and B cell immunodeficiency (multiple); hematologic cancer (multiple); and lupus nephritis. Biomarker of several diseases, including allergic rhinitis; autoimmune disease (multiple); cardiovascular system disease (multiple); diabetes mellitus (multiple); and hematologic cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CD154; CD40 antigen ligand; CD40-L; CD40L; gp39; hCD40L; HIGM1; IGM; IMD3; T-B cell-activating molecule; T-BAM; T-cell antigen Gp39; TNF-related activation protein; TNFSF5; TRAP; tumor necrosis factor (ligand) superfamily member 5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X136,648,158 - 136,660,390 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 EnsemblX136,648,158 - 136,660,390 (+)EnsemblGRCh38hg38GRCh38
GRCh37X135,730,317 - 135,742,549 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X135,558,002 - 135,570,215 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X135,455,855 - 135,468,068NCBI
CeleraX136,094,012 - 136,106,224 (+)NCBICelera
Cytogenetic MapXq26.3NCBI
HuRefX125,001,305 - 125,013,640 (+)NCBIHuRef
CHM1_1X135,641,985 - 135,654,211 (+)NCBICHM1_1
T2T-CHM13v2.0X134,956,900 - 134,969,116 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acquired immunodeficiency syndrome  (ISO)
Acute Coronary Syndrome  (IEP)
acute lymphoblastic leukemia  (ISO)
allergic disease  (EXP)
allergic rhinitis  (IEP)
Alzheimer's disease  (IEP,ISO)
amyotrophic lateral sclerosis  (EXP,ISO)
anti-basement membrane glomerulonephritis  (ISO)
antiphospholipid syndrome  (IDA)
aplastic anemia  (IEP)
asthma  (ISO)
atherosclerosis  (IEP,ISO)
autistic disorder  (IAGP)
autoimmune disease  (EXP,ISO)
autoimmune thrombocytopenic purpura  (IDA,IEP,IMP,ISO)
B-Cell Chronic Lymphocytic Leukemia  (IMP)
Behcet's disease  (IEP)
Brain Injuries  (ISO)
calcification of aortic valve  (ISO)
cardiovascular system disease  (IEP)
carotid artery disease  (IEP)
CD40 ligand deficiency  (EXP,IAGP,IDA,ISO)
Cholangiofibrosis  (ISO)
Chromosome Breakage  (EXP)
Chromosome Xq26.3 Duplication Syndrome  (IAGP)
Chronic Allograft Dysfunction  (ISO)
chronic lymphocytic leukemia  (IEP)
Colonic Neoplasms  (ISO)
combined T cell and B cell immunodeficiency  (IAGP)
common variable immunodeficiency  (IAGP)
Congenital Heart Defects, Multiple Types, 1, X-Linked  (IAGP)
congestive heart failure  (IEP)
coronary artery disease  (EXP,IAGP,IEP,ISO)
Coronary Disease  (ISO)
crescentic glomerulonephritis  (ISO)
cutaneous lupus erythematosus  (IEP)
cystic fibrosis  (IEP)
dermatomyositis  (IEP)
diabetes mellitus  (IEP)
diabetic angiopathy  (IEP)
Diabetic Nephropathies  (IEP)
Discoid Lupus Erythematosus  (IEP)
dysgammaglobulinemia  (IAGP)
Ehrlich tumor carcinoma  (ISO)
end stage renal disease  (IEP)
eosinophilic esophagitis  (IEP)
erythema multiforme  (IEP)
essential thrombocythemia  (IEP)
Experimental Arthritis  (ISO)
Experimental Autoimmune Myasthenia Gravis  (ISO)
Experimental Autoimmune Neuritis  (ISO)
Experimental Autoimmune Uveoretinitis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Neoplasms  (ISO)
factor VIII deficiency  (ISO)
familial hyperlipidemia  (IEP)
Fibrosis  (ISO)
follicular lymphoma  (IMP)
genetic disease  (IAGP)
Graft vs Host Disease  (ISO)
granulomatosis with polyangiitis  (IEP)
Graves' disease  (IMP)
Hashimoto Disease  (IEP)
HELLP syndrome  (IEP)
hepatocellular carcinoma  (ISO)
herpes simplex  (ISO)
Hodgkin's lymphoma  (EXP)
human immunodeficiency virus infectious disease  (IDA)
hyper IgM syndrome  (IAGP)
Hypercholesterolemia  (IDA,ISO)
inflammatory bowel disease  (ISS)
Kawasaki disease  (IDA)
kidney disease  (ISO)
lichen planus  (IEP)
lupus nephritis  (IDA,IEP,IMP,ISO)
Lyme Neuroborreliosis  (IEP)
malaria  (ISO)
membranous glomerulonephritis  (ISO)
Metabolic Syndrome  (IEP)
Middle East respiratory syndrome  (ISO)
migraine  (IEP)
multiple myeloma  (IDA,IEP,ISO)
Murine Acquired Immunodeficiency Syndrome  (ISO)
myocardial infarction  (IEP)
Myocardial Ischemia  (ISO)
narcolepsy  (IEP)
Necrosis  (EXP)
nephrosis  (ISO)
obesity  (IEP,ISO)
ovarian disease  (ISO)
Ovarian Neoplasms  (ISO)
Overactive Urinary Bladder  (IEP)
pemphigus  (IEP)
Penetrating Wounds  (ISO)
perinatal necrotizing enterocolitis  (ISO)
periodontal disease  (ISO)
periodontitis  (IEP)
peritonitis  (ISO)
pneumonia  (EXP)
pre-eclampsia  (IEP,ISO)
Primary Graft Dysfunction  (ISO)
pulmonary hypertension  (EXP,ISO)
Reperfusion Injury  (ISO)
Sepsis  (ISO)
Shock  (IEP)
sickle cell anemia  (IEP)
Sjogren's syndrome  (IEP)
Subacute Combined Degeneration  (ISO)
syndromic X-linked intellectual disability Lubs type  (IAGP)
systemic lupus erythematosus  (EXP,IEP,ISO)
thrombocytopenia  (ISO)
thrombosis  (IEP,ISO)
tick-borne encephalitis  (IEP)
transient cerebral ischemia  (ISO)
Transplant Rejection  (IEP,ISO)
type 1 diabetes mellitus  (IEP,ISO)
type 2 diabetes mellitus  (IEP)
urinary bladder cancer  (ISO)
Vascular Calcification  (IEP)
Viral Myocarditis  (ISO)
visceral leishmaniasis  (ISO)
vitamin B12 deficiency  (ISO)
X-linked hyper IgM syndrome  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-mevalonic acid  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3'-diindolylmethane  (EXP)
4-aminopyridine  (ISO)
5-fluorouracil  (EXP)
acetylsalicylic acid  (EXP)
ADP  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
asperentin  (ISO)
atorvastatin calcium  (EXP)
barium sulfate  (ISO)
benzo[a]pyrene  (EXP,ISO)
bezafibrate  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (ISO)
calcitriol  (EXP)
candesartan  (EXP)
carbon atom  (EXP)
ceric oxide  (ISO)
chlorpyrifos  (ISO)
cholesterol  (ISO)
cisplatin  (EXP,ISO)
clopidogrel  (EXP,ISO)
curcumin  (EXP)
DDE  (ISO)
diarsenic trioxide  (EXP)
dibenziodolium  (EXP)
dioxygen  (EXP)
dipyridamole  (EXP)
doxorubicin  (EXP)
elemental carbon  (EXP)
eptifibatide  (EXP)
ethanol  (ISO)
etoposide  (EXP)
fenofibrate  (EXP)
fingolimod hydrochloride  (EXP)
furan  (ISO)
Fusarenone X  (ISO)
gemcitabine  (EXP)
glutathione  (EXP)
glyphosate  (EXP)
heparin  (EXP)
hydrogen peroxide  (EXP)
hydroxychloroquine  (EXP)
hydroxysafflor yellow A  (ISO)
ionomycin  (ISO)
isoflurane  (ISO)
lipopolysaccharide  (ISO)
medroxyprogesterone acetate  (EXP)
metformin  (EXP)
mycophenolic acid  (ISO)
mycotoxin  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
neoechinulin A  (ISO)
nickel dichloride  (ISO)
ozone  (ISO)
p-menthan-3-ol  (EXP)
paclitaxel  (EXP)
pentobarbital  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
quercetin  (EXP)
reactive oxygen species  (EXP)
resveratrol  (ISO)
rotenone  (EXP,ISO)
silicon dioxide  (ISO)
simvastatin  (EXP,ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
sterigmatocystin  (ISO)
titanium dioxide  (ISO)
vemurafenib  (EXP)
vincaleukoblastine  (EXP)
vinclozolin  (ISO)
vinorelbine  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Tolerance induction by costimulator blockade in 100 cGy treated hosts with varying degrees of genetic disparity. Abedi M, etal., Leukemia. 2003 Sep;17(9):1871-9.
2. Differences of soluble CD40L in sera and plasma: implications on CD40L assay as a marker of thrombotic risk. Ahn ER, etal., Thromb Res. 2004;114(2):143-8.
3. The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. Aruffo A, etal., Cell. 1993 Jan 29;72(2):291-300.
4. The expression and concentration of CD40 ligand in normal pregnancy, preeclampsia, and hemolytic anemia, elevated liver enzymes and low platelet count (HELLP) syndrome. Azzam HA, etal., Blood Coagul Fibrinolysis. 2013 Jan;24(1):71-5. doi: 10.1097/MBC.0b013e32835a8aca.
5. Disruption of CD40/CD40-ligand interactions in a retinal autoimmunity model results in protection without tolerance. Bagenstose LM, etal., J Immunol. 2005 Jul 1;175(1):124-30.
6. Costimulation and autoimmune diabetes in BB rats. Beaudette-Zlatanova BC, etal., Am J Transplant. 2006 May;6(5 Pt 1):894-902.
7. Inhibition of the CD40-CD40ligand pathway prevents murine membranous glomerulonephritis. Biancone L, etal., Kidney Int. 1995 Aug;48(2):458-68.
8. Soluble CD40 ligand, high sensitive C-reactive protein and fetuin-A levels in patients with essential thrombocythemia. Bilgir F, etal., Transfus Apher Sci. 2012 Feb;46(1):67-71. doi: 10.1016/j.transci.2011.11.013. Epub 2011 Dec 23.
9. A striking local esophageal cytokine expression profile in eosinophilic esophagitis. Blanchard C, etal., J Allergy Clin Immunol. 2011 Jan;127(1):208-17, 217.e1-7.
10. Blocking the CD40-CD40L interaction by CD40-Ig reduces disease progress in murine myocarditis induced by CVB3. Bo H, etal., Cardiovasc Pathol. 2010 Nov-Dec;19(6):371-6. doi: 10.1016/j.carpath.2009.10.002. Epub 2009 Nov 14.
11. A short course of BG9588 (anti-CD40 ligand antibody) improves serologic activity and decreases hematuria in patients with proliferative lupus glomerulonephritis. Boumpas DT, etal., Arthritis Rheum. 2003 Mar;48(3):719-27.
12. Identification of CD40 ligand in Alzheimer's disease and in animal models of Alzheimer's disease and brain injury. Calingasan NY, etal., Neurobiol Aging. 2002 Jan-Feb;23(1):31-9.
13. CD40-CD154 expression in calcified and non-calcified coronary lesions of patients with chronic renal failure. Campean V, etal., Atherosclerosis. 2007 Jan;190(1):156-66. Epub 2006 Feb 21.
14. The CD40/CD40 ligand system is involved in the pathogenesis of pemphigus. Caproni M, etal., Clin Immunol. 2007 Jul;124(1):22-5. Epub 2007 May 24.
15. The CD40/CD40 ligand system in the skin of patients with subacute cutaneous lupus erythematosus. Caproni M, etal., J Rheumatol. 2007 Dec;34(12):2412-6. Epub 2007 Nov 15.
16. Exploring the role of short-course cyclosporin a therapy in preventing homograft valve calcification after transplantation. Chang Q, etal., Cell Immunol. 2014 Jan;287(1):36-45. doi: 10.1016/j.cellimm.2013.11.008. Epub 2013 Dec 8.
17. The ginsenoside metabolite compound K exerts its anti-inflammatory activity by downregulating memory B cell in adjuvant-induced arthritis. Chen J, etal., Pharm Biol. 2016 Jul;54(7):1280-8. doi: 10.3109/13880209.2015.1074254. Epub 2016 May 24.
18. Evaluating antithrombotic activity of HY023016 on rat hypercoagulable model. Chen QF, etal., Eur J Pharmacol. 2016 Jun 15;781:190-7. doi: 10.1016/j.ejphar.2016.04.023. Epub 2016 Apr 13.
19. Soluble CD40L (CD154) is increased in patients with shock. Chew M, etal., Inflamm Res. 2010 Nov;59(11):979-82. Epub 2010 May 20.
20. Increased concentrations of soluble CD40 ligand may help to identify type 1 diabetic adolescents and young adults at risk for developing persistent microalbuminuria. Chiarelli F, etal., Diabetes Metab Res Rev. 2008 Oct;24(7):570-6.
21. Norepinephrine induces systolic failure and inhibits antiapoptotic genes in a polymicrobial septic rat model. Chopra M, etal., Life Sci. 2010 Dec 18;87(23-26):672-8. doi: 10.1016/j.lfs.2010.09.029. Epub 2010 Oct 7.
22. Low CD40L levels and relative lymphopenia in narcoleptic patients. Coelho FM, etal., Hum Immunol. 2011 Oct;72(10):817-20. doi: 10.1016/j.humimm.2011.05.024. Epub 2011 May 30.
23. Blockade of CD40 ligand for intercellular communication reduces hypertension, placental oxidative stress, and AT1-AA in response to adoptive transfer of CD4+ T lymphocytes from RUPP rats. Cornelius DC, etal., Am J Physiol Regul Integr Comp Physiol. 2015 Nov 15;309(10):R1243-50. doi: 10.1152/ajpregu.00273.2015. Epub 2015 Aug 26.
24. Enhancing antitumor efficacy of chimeric antigen receptor T cells through constitutive CD40L expression. Curran KJ, etal., Mol Ther. 2015 Apr;23(4):769-78. doi: 10.1038/mt.2015.4. Epub 2015 Jan 13.
25. Cilostazol exerts antiplatelet and anti-inflammatory effects through AMPK activation and NF-kB inhibition on hypercholesterolemic rats. da Motta NA and de Brito FC, Fundam Clin Pharmacol. 2016 Aug;30(4):327-37. doi: 10.1111/fcp.12195. Epub 2016 Mar 31.
26. Soluble CD40 ligand is predictive of combined cardiovascular morbidity and mortality in patients on haemodialysis at a relatively short-term follow-up. Desideri G, etal., Nephrol Dial Transplant. 2011 Sep;26(9):2983-8. doi: 10.1093/ndt/gfq823. Epub 2011 Feb 8.
27. Increased monocytic activity and biomarkers of inflammation in patients with type 1 diabetes. Devaraj S, etal., Diabetes. 2006 Mar;55(3):774-9.
28. CD40 ligand induces an antileukemia immune response in vivo. Dilloo D, etal., Blood. 1997 Sep 1;90(5):1927-33.
29. Prevention of collagen-induced arthritis with an antibody to gp39, the ligand for CD40. Durie FH, etal., Science. 1993 Sep 3;261(5126):1328-30.
30. Role of CD28/CD80-86 and CD40/CD154 costimulatory interactions in host defense to primary herpes simplex virus infection. Edelmann KH and Wilson CB, J Virol. 2001 Jan;75(2):612-21.
31. Anti-C1q antibodies, sCD40L, TWEAK and CD4/CD8 ratio in systemic lupus erythematosus and their relations to disease activity and renal involvement. ElGendi SS and El-Sherif WT, Egypt J Immunol. 2009;16(1):135-48.
32. Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome. Erdos M, etal., Mol Immunol. 2008 Jan;45(1):278-82. Epub 2007 Jun 5.
33. Expression of cytokine signaling genes in morbidly obese patients with non-alcoholic steatohepatitis and hepatic fibrosis. Estep JM, etal., Obes Surg. 2009 May;19(5):617-24. Epub 2009 Mar 12.
34. Increased soluble CD40 ligand levels in cystic fibrosis. Falco A, etal., J Thromb Haemost. 2004 Apr;2(4):557-60.
35. Platelet degranulation is associated with progression of intima-media thickness of the common carotid artery in patients with diabetes mellitus type 2. Fateh-Moghadam S, etal., Arterioscler Thromb Vasc Biol. 2005 Jun;25(6):1299-303. Epub 2005 Apr 7.
36. Decreased plasma cytokines are associated with low platelet counts in aplastic anemia and immune thrombocytopenic purpura. Feng X, etal., J Thromb Haemost. 2012 Aug;10(8):1616-23. doi: 10.1111/j.1538-7836.2012.04757.x.
37. Platelet soluble CD40L and matrix metalloproteinase 9 activity are proinflammatory mediators in Behcet disease patients. Fernandez Bello I, etal., Thromb Haemost. 2012 Jan;107(1):88-98. doi: 10.1160/TH11-08-0556. Epub 2011 Nov 24.
38. Effect of resveratrol on platelet activation in hypercholesterolemic rats: CD40-CD40L system as a potential target. Gocmen AY, etal., Appl Physiol Nutr Metab. 2011 Jun;36(3):323-30. doi: 10.1139/h11-022. Epub 2011 May 16.
39. Effect of atorvastatin on atherosclerotic plaque formation and platelet activation in hypercholesterolemic rats. Gocmen AY, etal., Can J Physiol Pharmacol. 2013 Sep;91(9):680-5. doi: 10.1139/cjpp-2012-0325. Epub 2013 Apr 8.
40. Soluble P-selectin and CD40L levels in subjects with prediabetes, diabetes mellitus, and metabolic syndrome--the Chennai Urban Rural Epidemiology Study. Gokulakrishnan K, etal., Metabolism. 2006 Feb;55(2):237-42.
41. Antibody to the ligand for CD40 (gp39) inhibits murine AIDS-associated splenomegaly, hypergammaglobulinemia, and immunodeficiency in disease-susceptible C57BL/6 mice. Green KA, etal., J Virol. 1996 Apr;70(4):2569-75.
42. Evidence for a continued requirement for CD40/CD40 ligand (CD154) interactions in the progression of LP-BM5 retrovirus-induced murine AIDS. Green KA, etal., Virology. 1998 Feb 15;241(2):260-8.
43. Platelet CD40 ligand and bleeding during P2Y12 inhibitor treatment in acute coronary syndrome. Grosdidier C, etal., Res Pract Thromb Haemost. 2019 Jul 26;3(4):684-694. doi: 10.1002/rth2.12244. eCollection 2019 Oct.
44. Soluble CD40 ligand and prolactin levels in migraine patients during interictal period. Guldiken S, etal., J Headache Pain. 2011 Jun;12(3):355-60. Epub 2011 Feb 18.
45. Local activation of dendritic cells leads to insulitis and development of insulin-dependent diabetes in transgenic mice expressing CD154 on the pancreatic beta-cells. Haase C, etal., Diabetes. 2004 Oct;53(10):2588-95.
46. Platelet activation in patients with atherosclerotic renal artery stenosis undergoing stent revascularization. Haller S, etal., Clin J Am Soc Nephrol. 2011 Sep;6(9):2185-91. doi: 10.2215/CJN.03140411. Epub 2011 Aug 4.
47. Immunogene therapy by adenovirus vector expressing CD40 ligand for metastatic liver cancer in rats. Hanyu K, etal., Anticancer Res. 2008 Sep-Oct;28(5A):2785-9.
48. A Highly Immunogenic, Protective, and Safe Adenovirus-Based Vaccine Expressing Middle East Respiratory Syndrome Coronavirus S1-CD40L Fusion Protein in a Transgenic Human Dipeptidyl Peptidase 4 Mouse Model. Hashem AM, etal., J Infect Dis. 2019 Oct 8;220(10):1558-1567. doi: 10.1093/infdis/jiz137.
49. Cutting Edge: Ectopic expression of CD40 ligand on B cells induces lupus-like autoimmune disease. Higuchi T, etal., J Immunol. 2002 Jan 1;168(1):9-12.
50. Soluble CD154 is a unique predictor of nonfatal and fatal atherothrombotic events in patients who have end-stage renal disease and are on hemodialysis. Hocher B, etal., J Am Soc Nephrol. 2007 Apr;18(4):1323-30. Epub 2007 Feb 21.
51. Adenovirus-mediated CD40L gene therapy induced both humoral and cellular immunity against rat model of hepatocellular carcinoma. Iida T, etal., Cancer Sci. 2008 Oct;99(10):2097-103.
52. Immunogene therapy against colon cancer metastasis using an adenovirus vector expressing CD40 ligand. Iida T, etal., Surgery. 2010 Nov;148(5):925-35. Epub 2010 Apr 7.
53. Blockade of CD40 ligand suppresses chronic experimental myasthenia gravis by down-regulation of Th1 differentiation and up-regulation of CTLA-4. Im SH, etal., J Immunol. 2001 Jun 1;166(11):6893-8.
54. Acquisition of host-derived CD40L by HIV-1 in vivo and its functional consequences in the B-cell compartment. Imbeault M, etal., J Virol. 2011 Mar;85(5):2189-200. Epub 2010 Dec 22.
55. CD40/CD40 ligand signaling in mouse cerebral microvasculature after focal ischemia/reperfusion. Ishikawa M, etal., Circulation. 2005 Apr 5;111(13):1690-6. Epub 2005 Mar 28.
56. Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand. Jain A, etal., Blood. 2011 Aug 12.
57. A phase 1 study of prasugrel in patients with sickle cell disease: effects on biomarkers of platelet activation and coagulation. Jakubowski JA, etal., Thromb Res. 2014 Feb;133(2):190-5. doi: 10.1016/j.thromres.2013.12.008. Epub 2013 Dec 7.
58. Surface camouflage of pancreatic islets using 6-arm-PEG-catechol in combined therapy with tacrolimus and anti-CD154 monoclonal antibody for xenotransplantation. Jeong JH, etal., Biomaterials. 2011 Nov;32(31):7961-70. doi: 10.1016/j.biomaterials.2011.06.068. Epub 2011 Aug 9.
59. [Changes of soluble CD40 ligand in patients with hyperlipidemia of blood stasis syndrome and its clinical significance]. Jin L, etal., Zhongguo Zhong Xi Yi Jie He Za Zhi. 2011 Mar;31(3):315-8.
60. Blockade of CD40-CD40 ligand protects against renal injury in chronic proteinuric renal disease. Kairaitis L, etal., Kidney Int. 2003 Oct;64(4):1265-72.
61. Serum soluble CD40L concentration depending on the stage of multiple myeloma and its correlation with selected angiogenic cytokines. Kaminska J, etal., Pol Arch Med Wewn. 2016 May 31;126(5):321-9. doi: 10.20452/pamw.3427. Epub 2016 May 31.
62. Association of soluble CD40 ligand with carotid atherosclerosis in Japanese type 1 diabetic patients. Katakami N, etal., Diabetologia. 2006 Jul;49(7):1670-6. Epub 2006 May 12.
63. Blockade of CD40/CD40 ligand interactions attenuates skin fibrosis and autoimmunity in the tight-skin mouse. Komura K, etal., Ann Rheum Dis. 2008 Jun;67(6):867-72. Epub 2007 Sep 6.
64. CD40/154 blockade and rejection of islet allografts in the streptozotocin and autoimmune diabetic rat. Kover KL, etal., Pediatr Diabetes. 2001 Dec;2(4):178-83.
65. CD40 Gene polymorphisms associated with susceptibility and coronary artery lesions of Kawasaki disease in the Taiwanese population. Kuo HC, etal., ScientificWorldJournal. 2012;2012:520865. doi: 10.1100/2012/520865. Epub 2012 May 2.
66. Repetitive hyperbaric oxygenation attenuates reactive astrogliosis and suppresses expression of inflammatory mediators in the rat model of brain injury. Lavrnja I, etal., Mediators Inflamm. 2015;2015:498405. doi: 10.1155/2015/498405. Epub 2015 Apr 20.
67. The CD40-CD154 co-stimulation pathway mediates innate immune injury in adriamycin nephrosis. Lee VW, etal., Nephrol Dial Transplant. 2010 Mar;25(3):717-30. doi: 10.1093/ndt/gfp569. Epub 2009 Nov 4.
68. Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome. Lee WI, etal., Blood. 2005 Mar 1;105(5):1881-90. Epub 2004 Sep 9.
69. Disruption of antigen-induced inflammatory responses in CD40 ligand knockout mice. Lei XF, etal., J Clin Invest. 1998 Mar 15;101(6):1342-53.
70. [Effects of electroacupuncture intervention on blood lipid levels and expression of CD 40 L and MMP-9 in the coronary artery tissue in coronary heart disease rats]. Li M, etal., Zhen Ci Yan Jiu. 2013 Apr;38(2):123-8.
71. Effect of curcumin on permeability of coronary artery and expression of related proteins in rat coronary atherosclerosis heart disease model. Li X, etal., Int J Clin Exp Pathol. 2015 Jun 1;8(6):7247-53. eCollection 2015.
72. Adaptive immune response in osteoclastic bone resorption induced by orally administered Aggregatibacter actinomycetemcomitans in a rat model of periodontal disease. Li Y, etal., Mol Oral Microbiol. 2010 Aug;25(4):275-92.
73. Platelet CD40L mediates thrombotic and inflammatory processes in atherosclerosis. Lievens D, etal., Blood. 2010 Nov 18;116(20):4317-27. Epub 2010 Aug 12.
74. Elevated circulating levels of soluble CD-40 ligand in haemodialysis patients with symptomatic coronary heart disease. Lim PS, etal., Nephrology (Carlton). 2008 Dec;13(8):677-83. doi: 10.1111/j.1440-1797.2008.00999.x. Epub 2008 Nov 17.
75. X-linked hyper-immunoglobulin M syndrome: molecular genetic study and long-time follow-up of three generations of a Chinese family. Lin SC, etal., Int Arch Allergy Immunol. 2006;140(1):1-8. Epub 2006 Feb 23.
76. From transcriptome analysis to therapeutic anti-CD40L treatment in the SOD1 model of amyotrophic lateral sclerosis. Lincecum JM, etal., Nat Genet. 2010 May;42(5):392-9. Epub 2010 Mar 28.
77. Intratumoral administration of immature dendritic cells following the adenovirus vector encoding CD40 ligand elicits significant regression of established myeloma. Liu Y, etal., Cancer Gene Ther. 2005 Feb;12(2):122-32.
78. [Protective effect of Buyanghuanwu Decoction on myocardial ischemia induced by isoproterenol in rats]. Liu Y, etal., Zhong Yao Cai. 2009 Mar;32(3):380-3.
79. AdCD40L gene therapy counteracts T regulatory cells and cures aggressive tumors in an orthotopic bladder cancer model. Loskog AS, etal., Clin Cancer Res. 2005 Dec 15;11(24 Pt 1):8816-21.
80. Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies. Ma CS, etal., J Allergy Clin Immunol. 2015 Oct;136(4):993-1006.e1. doi: 10.1016/j.jaci.2015.05.036. Epub 2015 Jul 7.
81. Role of CD40-CD154 pathway in the rejection of concordant and discordant xenogeneic islets. Mai G, etal., Transplant Proc. 2005 Jan-Feb;37(1):460-2.
82. Immune modulation and apoptosis induction: Two sides of antitumoural activity of a standardised herbal formulation of Withania somnifera. Malik F, etal., Eur J Cancer. 2009 May;45(8):1494-509. doi: 10.1016/j.ejca.2009.01.034. Epub 2009 Mar 5.
83. Blockade of T cell costimulatory signals using adenovirus vectors prevents both the induction and the progression of experimental autoimmune myocarditis. Matsui Y, etal., J Mol Cell Cardiol. 2002 Mar;34(3):279-95. doi: 10.1006/jmcc.2001.1511.
84. CD40 ligand (CD154) takes part in regulation of the transition to mononuclear cell dominance during peritonitis. Mazar J, etal., Kidney Int. 2005 Apr;67(4):1340-9.
85. Autoimmune thrombocytopenia: flow cytometric determination of platelet-associated CD154/CD40L and CD40 on peripheral blood T and B lymphocytes. Meabed MH, etal., Hematology. 2007 Aug;12(4):301-7.
86. Overexpression of CD40 ligand in murine epidermis results in chronic skin inflammation and systemic autoimmunity. Mehling A, etal., J Exp Med. 2001 Sep 3;194(5):615-28.
87. Involvement of CD40-CD40L signaling in postischemic lung injury. Moore TM, etal., Am J Physiol Lung Cell Mol Physiol. 2002 Dec;283(6):L1255-62. Epub 2002 Aug 9.
88. Prevention of autoimmune diabetes in the DRBB rat by CD40/154 blockade. Moore WV, etal., J Autoimmun. 2002 Nov;19(3):139-45.
89. Modulation of T-cell costimulation as immunotherapy or immunochemotherapy in experimental visceral leishmaniasis. Murray HW, etal., Infect Immun. 2003 Nov;71(11):6453-62.
90. Serum CD40/CD40L system in Graves' disease and Hashimoto's thyroiditis related to soluble Fas, FasL and humoral markers of autoimmune response. Mysliwiec J, etal., Immunol Invest. 2007;36(3):247-57.
91. Expression of CD40/CD40 ligand and Bcl-2 family proteins in labial salivary glands of patients with Sjogren's syndrome. Nakamura H, etal., Lab Invest. 1999 Mar;79(3):261-9.
92. Autoantibody to CD40 ligand in systemic lupus erythematosus: association with thrombocytopenia but not thromboembolism. Nakamura M, etal., Rheumatology (Oxford). 2006 Feb;45(2):150-6. Epub 2005 Sep 27.
93. CD4+ T cells elicit host immune responses to MHC class II-negative ovarian cancer through CCL5 secretion and CD40-mediated licensing of dendritic cells. Nesbeth YC, etal., J Immunol. 2010 May 15;184(10):5654-62. Epub 2010 Apr 16.
94. CD40, CD154, Bax and Bcl-2 expression in Sjogren's syndrome salivary glands: a putative anti-apoptotic role during its effector phases. Ohlsson M, etal., Scand J Immunol. 2002 Dec;56(6):561-71.
95. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
96. T cells primed by Leishmania major infection cross-react with alloantigens and alter the course of allograft rejection. Pantenburg B, etal., J Immunol. 2002 Oct 1;169(7):3686-93.
97. The effect of anti-CD40 ligand in immune thrombocytopenic purpura. Patel VL, etal., Br J Haematol. 2008 May;141(4):545-8. doi: 10.1111/j.1365-2141.2008.07039.x. Epub 2008 Mar 12.
98. Abrogation of pathogenic IgG autoantibody production in CD40L gene-deleted lupus-prone New Zealand Black mice. Pau E, etal., Clin Immunol. 2011 May;139(2):215-27. Epub 2011 Mar 17.
99. alpha beta T cell regulation and CD40 ligand dependence in murine systemic autoimmunity. Peng SL, etal., J Immunol. 1997 Mar 1;158(5):2464-70.
100. Role of CD40-CVD40L in mouse severe malaria. Piguet PF, etal., Am J Pathol. 2001 Aug;159(2):733-42.
101. Thrombocytopenia in an animal model of malaria is associated with an increased caspase-mediated death of thrombocytes. Piguet PF, etal., Apoptosis. 2002 Apr;7(2):91-8.
102. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
103. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
104. CD40L Deficiency Ameliorates Adipose Tissue Inflammation and Metabolic Manifestations of Obesity in Mice. Poggi M, etal., Arterioscler Thromb Vasc Biol. 2011 Oct;31(10):2251-60. Epub 2011 Aug 4.
105. Gene expression profiling of Lucilia sericata larvae extraction/secretion-treated skin wounds. Polat E, etal., Gene. 2014 Oct 25;550(2):223-9. doi: 10.1016/j.gene.2014.08.033. Epub 2014 Aug 19.
106. Distinct mechanisms of action of anti-CD154 in early versus late treatment of murine lupus nephritis. Quezada SA, etal., Arthritis Rheum. 2003 Sep;48(9):2541-54.
107. Blockade of CD40/CD40 ligand interactions prevents induction of factor VIII inhibitors in hemophilic mice but does not induce lasting immune tolerance. Reipert BM, etal., Thromb Haemost. 2001 Dec;86(6):1345-52.
108. Antibody to gp39, the ligand for CD40 significantly inhibits the humoral response from Graves' thyroid tissues xenografted into severe combined immunodeficient (SCID) mice. Resetkova E, etal., Thyroid. 1996 Aug;6(4):267-73.
109. Blockade of the CD154-CD40 costimulatory pathway prevents the development of experimental autoimmune glomerulonephritis. Reynolds J, etal., Kidney Int. 2004 Oct;66(4):1444-52.
110. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
111. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
112. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
113. Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG. Rigaud S, etal., Blood. 2011 Jul 14;118(2):252-61. Epub 2011 May 4.
114. Effects of xinfeng capsules on expression of platelet granule membrane protein 140 and platelet cluster of differentiation 40 ligand in peripheral blood of adjuvant arthritis rats. Rui-Kai Z and Jian L, Int J Rheumatol. 2012;2012:139696. doi: 10.1155/2012/139696. Epub 2012 May 7.
115. Intrinsic renal cell expression of CD40 directs Th1 effectors inducing experimental crescentic glomerulonephritis. Ruth AJ, etal., J Am Soc Nephrol. 2003 Nov;14(11):2813-22.
116. Effect of statins on soluble CD40 ligand in hypercholesterolemic Type 2 diabetic patients. Santini E, etal., J Endocrinol Invest. 2008 Jul;31(7):660-5.
117. Hypothermic oxygenated perfusion (HOPE) protects from biliary injury in a rodent model of DCD liver transplantation. Schlegel A, etal., J Hepatol. 2013 Nov;59(5):984-91. doi: 10.1016/j.jhep.2013.06.022. Epub 2013 Jun 29.
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120. CD40 ligand in pathogenesis of autoimmune ovarian disease of day 3-thymectomized mice: implication for CD40 ligand antibody therapy. Sharp C, etal., J Immunol. 2003 Feb 15;170(4):1667-74.
121. Alloimmune activation enhances innate tissue inflammation/injury in a mouse model of liver ischemia/reperfusion injury. Shen X, etal., Am J Transplant. 2010 Aug;10(8):1729-37.
122. Heightened CD40 ligand gene expression in peripheral CD4+ T cells from patients with kidney allograft rejection. Shoker A, etal., Transplantation. 2000 Aug 15;70(3):497-505.
123. The Role of Type I Interferon Subtypes and Interferon-Gamma in Type I Interferon Diabetes Inhibitory Activity in the NOD Mouse. Sobel D, etal., J Interferon Cytokine Res. 2016 Apr;36(4):238-46. doi: 10.1089/jir.2014.0232. Epub 2015 Dec 30.
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125. Allogenic mixed chimerism induced by nonlymphoablative regimen including donor BMT with low-dose TBI and anti-CD40L cured proliferative glomerulonephritis in lupus mice. Takeuchi E and Takeuchi Y, Ann N Y Acad Sci. 2007 Sep;1110:362-7.
126. Relationship between markers of platelet activation and inflammation with disease activity in Wegener's granulomatosis. Tomasson G, etal., J Rheumatol. 2011 Jun;38(6):1048-54. Epub 2011 Mar 16.
127. Interaction between cytokines and sCD40L in patients with stable and unstable coronary syndromes. Tousoulis D, etal., Eur J Clin Invest. 2007 Aug;37(8):623-8.
128. Serum concentrations and clinical significance of soluble CD40 ligand in patients with multiple myeloma. Tsirakis G, etal., Med Oncol. 2012 Dec;29(4):2396-401. doi: 10.1007/s12032-012-0203-2. Epub 2012 Mar 9.
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131. The levels of soluble CD40 ligand and C-reactive protein in normal weight, overweight and obese people. Unek IT, etal., Clin Med Res. 2010 Jul;8(2):89-95.
132. Enhanced levels of soluble CD40 ligand and C-reactive protein in a total of 312 patients with metabolic syndrome. Unek IT, etal., Metabolism. 2010 Mar;59(3):305-13. Epub 2009 Dec 16.
133. A common SNP in the CD40 region is associated with systemic lupus erythematosus and correlates with altered CD40 expression: implications for the pathogenesis. Vazgiourakis VM, etal., Ann Rheum Dis. 2011 Sep 12.
134. Increased levels of the CD40:CD40 ligand dyad in the cerebrospinal fluid of rats with vitamin B12(cobalamin)-deficient central neuropathy. Veber D, etal., J Neuroimmunol. 2006 Jul;176(1-2):24-33. Epub 2006 May 22.
135. Expression of CD40 ligand on CD4+ T-cells and platelets correlated to the coronary artery lesion and disease progress in Kawasaki disease. Wang CL, etal., Pediatrics. 2003 Feb;111(2):E140-7.
136. A phase I study of immune gene therapy for patients with CLL using a membrane-stable, humanized CD154. Wierda WG, etal., Leukemia. 2010 Nov;24(11):1893-900. doi: 10.1038/leu.2010.191. Epub 2010 Sep 30.
137. Modified serum profiles of inflammatory and vasoconstrictive factors in patients with emotional stress-induced acute coronary syndrome during World Cup Soccer 2006. Wilbert-Lampen U, etal., J Am Coll Cardiol. 2010 Feb 16;55(7):637-42.
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139. Ileal immune dysregulation in necrotizing enterocolitis: role of CD40/CD40L in the pathogenesis of disease. Xu J, etal., J Pediatr Gastroenterol Nutr. 2011 Feb;52(2):140-6.
140. Combination of IL-1 receptor antagonist, IL-20 and CD40 ligand for the prediction of acute cellular renal allograft rejection. Xu X, etal., J Clin Immunol. 2013 Jan;33(1):280-7. doi: 10.1007/s10875-012-9777-x. Epub 2012 Sep 5.
141. Pigment epithelium-derived factor (PEDF) inhibits diabetes- or advanced glycation end product (AGE)-induced platelet CD40 ligand overexpression in rats. Yamagishi SI, etal., Int J Cardiol. 2009 Feb 21.
142. Protective effects of chinese traditional medicine buyang huanwu decoction on myocardial injury. Yang G, etal., Evid Based Complement Alternat Med. 2011;2011:930324. doi: 10.1093/ecam/nep013. Epub 2011 Jun 5.
143. Zinc finger protein A20 protects rats against chronic liver allograft dysfunction. Yang J, etal., World J Gastroenterol. 2012 Jul 21;18(27):3537-50. doi: 10.3748/wjg.v18.i27.3537.
144. Interruption of CD40 Pathway Improves Efficacy of Transplanted Endothelial Progenitor Cells in Monocrotaline Induced Pulmonary Arterial Hypertension. YanYun P, etal., Cell Physiol Biochem. 2015;36(2):683-96.
145. Enhanced P-selectin expression and increased soluble CD40 Ligand in patients with Type 1 diabetes mellitus and microangiopathy: evidence for platelet hyperactivity and chronic inflammation. Yngen M, etal., Diabetologia. 2004 Mar;47(3):537-40. Epub 2004 Feb 13.
146. Elevated levels of biologically active soluble CD40 ligand in the serum of patients with chronic lymphocytic leukaemia. Younes A, etal., Br J Haematol. 1998 Jan;100(1):135-41.
147. Soluble CD40 and soluble CD40L concentrations in the serum and the cerebrospinal fluid of patients with tick borne encephalitis and neuroborreliosis Zajkowska JM, etal., Neurol Neurochir Pol. 2006 Jan-Feb;40(1):22-7.
148. [A study of costimulatory molecules in allergic allergic rhinitis patients]. Zhu R, etal., Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2008 Sep;22(17):780-2, 784.
149. B cells play a cooperative role via CD40L-CD40 interaction in T cell-mediated experimental autoimmune neuritis in Lewis rats. Zhu W, etal., Neurobiol Dis. 2007 Mar;25(3):642-8. Epub 2006 Dec 22.
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Genomics

Comparative Map Data
CD40LG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X136,648,158 - 136,660,390 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 EnsemblX136,648,158 - 136,660,390 (+)EnsemblGRCh38hg38GRCh38
GRCh37X135,730,317 - 135,742,549 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X135,558,002 - 135,570,215 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X135,455,855 - 135,468,068NCBI
CeleraX136,094,012 - 136,106,224 (+)NCBICelera
Cytogenetic MapXq26.3NCBI
HuRefX125,001,305 - 125,013,640 (+)NCBIHuRef
CHM1_1X135,641,985 - 135,654,211 (+)NCBICHM1_1
T2T-CHM13v2.0X134,956,900 - 134,969,116 (+)NCBIT2T-CHM13v2.0
Cd40lg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X56,257,503 - 56,269,402 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX56,257,503 - 56,269,402 (+)EnsemblGRCm39 Ensembl
GRCm38X57,212,143 - 57,224,042 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX57,212,143 - 57,224,042 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X54,465,320 - 54,477,219 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X53,558,927 - 53,570,826 (+)NCBIMGSCv36mm8
CeleraX43,689,623 - 43,701,548 (+)NCBICelera
Cytogenetic MapXA6NCBI
cM MapX31.21NCBI
Cd40lg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X135,127,119 - 135,138,302 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX135,126,969 - 135,138,306 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX137,323,952 - 137,335,135 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0X140,881,620 - 140,892,805 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0X138,451,019 - 138,462,204 (+)NCBIRnor_WKY
Rnor_6.0X159,703,703 - 159,714,886 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX159,703,578 - 159,716,562 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X154,330,893 - 154,341,954 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X141,925,019 - 141,937,183 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X141,998,451 - 142,010,616 (+)NCBI
CeleraX143,160,596 - 143,171,765 (+)NCBICelera
Cytogenetic MapXq37NCBI
Cd40lg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554898,465,164 - 8,477,746 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554898,465,571 - 8,477,714 (-)NCBIChiLan1.0ChiLan1.0
CD40LG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X136,042,849 - 136,055,158 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX136,042,849 - 136,058,202 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X125,776,138 - 125,788,820 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
CD40LG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X107,001,421 - 107,023,007 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX107,010,890 - 107,023,006 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX92,832,126 - 92,844,241 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X108,980,873 - 109,002,662 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX108,990,551 - 109,002,661 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X106,131,221 - 106,143,392 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X108,322,638 - 108,334,748 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X107,964,432 - 107,976,548 (+)NCBIUU_Cfam_GSD_1.0
Cd40lg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X104,994,220 - 105,007,112 (+)NCBIHiC_Itri_2
SpeTri2.0NW_00493651310,607,617 - 10,620,403 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CD40LG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX111,778,493 - 111,789,709 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X111,778,666 - 111,788,901 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X127,636,797 - 127,647,035 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CD40LG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X111,655,301 - 111,667,602 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX111,655,397 - 111,666,639 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606549,341,810 - 49,354,077 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cd40lg
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462480810,472,572 - 10,484,338 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462480810,472,028 - 10,484,407 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
GDB:204469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,742,105 - 135,742,349UniSTSGRCh37
Build 36X135,569,771 - 135,570,015RGDNCBI36
CeleraX136,105,780 - 136,106,024RGD
Cytogenetic MapXq26UniSTS
HuRefX125,013,200 - 125,013,440UniSTS
DXS1256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,732,629 - 135,732,826UniSTSGRCh37
Build 36X135,560,295 - 135,560,492RGDNCBI36
CeleraX136,096,305 - 136,096,502RGD
Cytogenetic MapXq26UniSTS
HuRefX125,003,597 - 125,003,794UniSTS
Camk2g  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,741,575 - 135,741,831UniSTSGRCh37
Build 36X135,569,241 - 135,569,497RGDNCBI36
CeleraX136,105,251 - 136,105,507RGD
HuRefX125,012,671 - 125,012,927UniSTS
GDB:340965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,730,388 - 135,730,544UniSTSGRCh37
Build 36X135,558,054 - 135,558,210RGDNCBI36
CeleraX136,094,064 - 136,094,220RGD
Cytogenetic MapXq26UniSTS
HuRefX125,001,356 - 125,001,512UniSTS
GDB:340969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,730,422 - 135,732,527UniSTSGRCh37
Build 36X135,558,088 - 135,560,193RGDNCBI36
CeleraX136,094,098 - 136,096,203RGD
Cytogenetic MapXq26UniSTS
HuRefX125,001,390 - 125,003,495UniSTS
GDB:340972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,732,492 - 135,736,589UniSTSGRCh37
Build 36X135,560,158 - 135,564,255RGDNCBI36
CeleraX136,096,168 - 136,100,265RGD
Cytogenetic MapXq26UniSTS
HuRefX125,003,460 - 125,007,557UniSTS
GDB:340979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,736,560 - 135,738,546UniSTSGRCh37
Build 36X135,564,226 - 135,566,212RGDNCBI36
CeleraX136,100,236 - 136,102,222RGD
Cytogenetic MapXq26UniSTS
HuRefX125,007,528 - 125,009,642UniSTS
GDB:340987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,741,250 - 135,741,605UniSTSGRCh37
Build 36X135,568,916 - 135,569,271RGDNCBI36
CeleraX136,104,926 - 136,105,281RGD
Cytogenetic MapXq26UniSTS
HuRefX125,012,346 - 125,012,701UniSTS
PMC259134P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,742,319 - 135,742,488UniSTSGRCh37
Build 36X135,569,985 - 135,570,154RGDNCBI36
CeleraX136,105,994 - 136,106,163RGD
Cytogenetic MapXq26UniSTS
HuRefX125,013,410 - 125,013,579UniSTS
PMC86001P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,741,303 - 135,741,425UniSTSGRCh37
Build 36X135,568,969 - 135,569,091RGDNCBI36
CeleraX136,104,979 - 136,105,101RGD
Cytogenetic MapXq26UniSTS
HuRefX125,012,399 - 125,012,521UniSTS
TNFSF5_272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,741,699 - 135,742,567UniSTSGRCh37
Build 36X135,569,365 - 135,570,233RGDNCBI36
CeleraX136,105,375 - 136,106,242RGD
HuRefX125,012,795 - 125,013,658UniSTS
G10615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,742,100 - 135,742,233UniSTSGRCh37
Build 36X135,569,766 - 135,569,899RGDNCBI36
CeleraX136,105,775 - 136,105,908RGD
Cytogenetic MapXq26UniSTS
HuRefX125,013,195 - 125,013,328UniSTS
DXS8200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,731,876 - 135,731,953UniSTSGRCh37
Build 36X135,559,542 - 135,559,619RGDNCBI36
CeleraX136,095,552 - 136,095,629RGD
Cytogenetic MapXq26UniSTS
HuRefX125,002,844 - 125,002,921UniSTS
RH17600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,742,324 - 135,742,472UniSTSGRCh37
Build 36X135,569,990 - 135,570,138RGDNCBI36
CeleraX136,105,999 - 136,106,147RGD
Cytogenetic MapXq26UniSTS
HuRefX125,013,415 - 125,013,563UniSTS
GeneMap99-GB4 RH MapX320.0UniSTS
CD40LG  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X135,741,266 - 135,741,468UniSTSGRCh37
CeleraX136,104,942 - 136,105,144UniSTS
HuRefX125,012,362 - 125,012,564UniSTS
GDB:340983  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq26UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR146Ahsa-miR-146a-5pMirtarbaseexternal_infoELISA//Luciferase reporter assay//qRT-PCR//WesternFunctional MTI21236257

Predicted Target Of
Summary Value
Count of predictions:1358
Count of miRNA genes:642
Interacting mature miRNAs:706
Transcripts:ENST00000370628, ENST00000370629
Prediction methods:Miranda, Pita, Pita,Targetscan, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 49 175 9 1 301 1 1 2 27 2
Low 839 1048 673 233 1034 177 1489 111 299 174 514 1100 55 865 697 2
Below cutoff 1315 1454 904 358 194 254 2266 1587 1969 171 752 258 104 332 1771 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB897731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF268888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF529195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY197739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY694987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ859998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS398757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS458154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS458181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D31797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ119668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF064753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FN298241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN344043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI658768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L07414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L47983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S66178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X67878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X96710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z15017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000370628   ⟹   ENSP00000359662
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,648,227 - 136,660,390 (+)Ensembl
RefSeq Acc Id: ENST00000370629   ⟹   ENSP00000359663
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,648,158 - 136,660,390 (+)Ensembl
RefSeq Acc Id: ENST00000695724   ⟹   ENSP00000512122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,648,164 - 136,660,388 (+)Ensembl
RefSeq Acc Id: ENST00000695725   ⟹   ENSP00000512123
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,648,177 - 136,660,282 (+)Ensembl
RefSeq Acc Id: ENST00000695726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,648,206 - 136,660,283 (+)Ensembl
RefSeq Acc Id: ENST00000695727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,648,262 - 136,651,714 (+)Ensembl
RefSeq Acc Id: ENST00000695728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,648,262 - 136,652,341 (+)Ensembl
RefSeq Acc Id: ENST00000695729
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX136,653,207 - 136,660,283 (+)Ensembl
RefSeq Acc Id: NM_000074   ⟹   NP_000065
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,648,158 - 136,660,390 (+)NCBI
GRCh37X135,730,281 - 135,742,549 (+)NCBI
Build 36X135,558,002 - 135,570,215 (+)NCBI Archive
HuRefX125,001,305 - 125,013,640 (+)ENTREZGENE
CHM1_1X135,641,985 - 135,654,211 (+)NCBI
T2T-CHM13v2.0X134,956,900 - 134,969,116 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000065   ⟸   NM_000074
- UniProtKB: P29965 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000359662   ⟸   ENST00000370628
RefSeq Acc Id: ENSP00000359663   ⟸   ENST00000370629
RefSeq Acc Id: ENSP00000512122   ⟸   ENST00000695724
RefSeq Acc Id: ENSP00000512123   ⟸   ENST00000695725
Protein Domains
TNF_2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P29965-F1-model_v2 AlphaFold P29965 1-261 view protein structure

Promoters
RGD ID:6808563
Promoter ID:HG_KWN:68215
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ENST00000370628,   NM_000074
Position:
Human AssemblyChrPosition (strand)Source
Build 36X135,557,771 - 135,558,271 (+)MPROMDB
RGD ID:13628224
Promoter ID:EPDNEW_H29387
Type:initiation region
Name:CD40LG_1
Description:CD40 ligand
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X136,648,182 - 136,648,242EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000074.3(CD40LG):c.346+1del deletion not provided [RCV000519149] ChrX:136654430 [GRCh38]
ChrX:135736589 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
CD40LG, THR211ASP variation Hyper-IgM syndrome type 1 [RCV000011911] ChrX:Xq26 pathogenic
NM_000074.3(CD40LG):c.349_409+2del deletion Hyper-IgM syndrome type 1 [RCV000011915] ChrX:Xq26 pathogenic
CD40LG, 8-BP DEL deletion Hyper-IgM syndrome type 1 [RCV000011916] ChrX:Xq26 pathogenic
CD40LG, 10-BP DEL deletion Hyper-IgM syndrome type 1 [RCV000011917] ChrX:Xq26 pathogenic
NM_000074.3(CD40LG):c.189dup (p.Val64fs) duplication Hyper-IgM syndrome type 1 [RCV000011919] ChrX:136650294..136650295 [GRCh38]
ChrX:135732453..135732454 [GRCh37]
ChrX:Xq26.3
pathogenic
CD40LG, ALU INS, EX1 insertion Hyper-IgM syndrome type 1 [RCV000011920] ChrX:Xq26 pathogenic
NM_000074.3(CD40LG):c.189del (p.Phe63fs) deletion Hyper-IgM syndrome type 1 [RCV000029463] ChrX:136650295 [GRCh38]
ChrX:135732454 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000029464]|not provided [RCV001092164]|not specified [RCV000507366] ChrX:136648279 [GRCh38]
ChrX:135730438 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.655G>A (p.Gly219Arg) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000029465]|not specified [RCV000358482] ChrX:136659284 [GRCh38]
ChrX:135741443 [GRCh37]
ChrX:Xq26.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000029466]|Hyperimmunoglobulin M syndrome [RCV000588005] ChrX:136659390 [GRCh38]
ChrX:135741549 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.703G>C (p.Ala235Pro) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000011907] ChrX:136659332 [GRCh38]
ChrX:135741491 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.680G>T (p.Gly227Val) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000011909] ChrX:136659309 [GRCh38]
ChrX:135741468 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.464T>C (p.Leu155Pro) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000011910]|not provided [RCV001507548] ChrX:136659093 [GRCh38]
ChrX:135741252 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000011912] ChrX:136648355 [GRCh38]
ChrX:135730514 [GRCh37]
ChrX:Xq26.3
pathogenic|likely pathogenic
NM_000074.3(CD40LG):c.419G>A (p.Trp140Ter) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000011913] ChrX:136659048 [GRCh38]
ChrX:135741207 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.418T>G (p.Trp140Gly) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000011914]|not provided [RCV000256172] ChrX:136659047 [GRCh38]
ChrX:135741206 [GRCh37]
ChrX:Xq26.3
pathogenic|likely pathogenic
NM_000074.3(CD40LG):c.368C>A (p.Ala123Glu) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000011918] ChrX:136656377 [GRCh38]
ChrX:135738536 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq26.3-27.1(chrX:136522136-140417943)x2 copy number gain See cases [RCV000052469] ChrX:136522136..140417943 [GRCh38]
ChrX:135604295..139500108 [GRCh37]
ChrX:135431961..139327774 [NCBI36]
ChrX:Xq26.3-27.1
pathogenic
GRCh38/hg38 Xq26.3(chrX:136613664-137581772)x3 copy number gain See cases [RCV000052470] ChrX:136613664..137581772 [GRCh38]
ChrX:135695823..136663931 [GRCh37]
ChrX:135523489..136491597 [NCBI36]
ChrX:Xq26.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq26.3(chrX:136005008-136665975)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054250]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054250]|See cases [RCV000054250] ChrX:136005008..136665975 [GRCh38]
ChrX:135196639..135748134 [GRCh37]
ChrX:134914833..135575800 [NCBI36]
ChrX:Xq26.3
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000074.3(CD40LG):c.506A>G (p.Tyr169Cys) single nucleotide variant not provided [RCV000171444] ChrX:136659135 [GRCh38]
ChrX:135741294 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.3(CD40LG):c.719_720del (p.Asn240fs) deletion not provided [RCV000171445] ChrX:136659348..136659349 [GRCh38]
ChrX:135741507..135741508 [GRCh37]
ChrX:Xq26.3
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq26.2-26.3(chrX:133532321-137519462)x2 copy number gain See cases [RCV000140818] ChrX:133532321..137519462 [GRCh38]
ChrX:132666349..136601621 [GRCh37]
ChrX:132494015..136429287 [NCBI36]
ChrX:Xq26.2-26.3
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000074.3(CD40LG):c.431G>A (p.Gly144Glu) single nucleotide variant not provided [RCV000255078] ChrX:136659060 [GRCh38]
ChrX:135741219 [GRCh37]
ChrX:Xq26.3
likely pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000074.3(CD40LG):c.684A>G (p.Val228=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000547346]|not specified [RCV000781203] ChrX:136659313 [GRCh38]
ChrX:135741472 [GRCh37]
ChrX:Xq26.3
benign
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000074.3(CD40LG):c.330C>A (p.Ser110Arg) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000697661] ChrX:136654414 [GRCh38]
ChrX:135736573 [GRCh37]
ChrX:Xq26.3
uncertain significance
Single allele duplication X-linked acrogigantism due to Xq26 microduplication [RCV000235066] ChrX:135601430..136192229 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xq26.3(chrX:135602028-136259908)x2 copy number gain X-linked acrogigantism due to Xq26 microduplication [RCV000210453] ChrX:135602028..136259908 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000074.3(CD40LG):c.38C>T (p.Ala13Val) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001089061]|not provided [RCV000726000]|not specified [RCV000339805] ChrX:136648286 [GRCh38]
ChrX:135730445 [GRCh37]
ChrX:Xq26.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000074.3(CD40LG):c.594C>T (p.Pro198=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001513122]|not provided [RCV000263063] ChrX:136659223 [GRCh38]
ChrX:135741382 [GRCh37]
ChrX:Xq26.3
benign|uncertain significance
NM_000074.3(CD40LG):c.638del (p.Ser213fs) deletion not provided [RCV000404454] ChrX:136659267 [GRCh38]
ChrX:135741426 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.216C>A (p.Cys72Ter) single nucleotide variant not provided [RCV000523806] ChrX:136650325 [GRCh38]
ChrX:135732484 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.658C>T (p.Gln220Ter) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001865515]|not provided [RCV000490123] ChrX:136659287 [GRCh38]
ChrX:135741446 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.421G>C (p.Ala141Pro) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000606199] ChrX:136659050 [GRCh38]
ChrX:135741209 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.148T>C (p.Leu50=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000615122]|not provided [RCV001712717]|not specified [RCV001702692] ChrX:136648396 [GRCh38]
ChrX:135730555 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.347-2A>G single nucleotide variant not provided [RCV000730681] ChrX:136656354 [GRCh38]
ChrX:135738513 [GRCh37]
ChrX:Xq26.3
pathogenic
Single allele duplication X-linked acrogigantism due to Xq26 microduplication [RCV000415468] ChrX:135622314..136191699 [GRCh37]
ChrX:Xq26.3
likely pathogenic
Single allele duplication X-linked acrogigantism due to Xq26 microduplication [RCV000415470] ChrX:135533330..136123779 [GRCh37]
ChrX:Xq26.3
likely pathogenic
Single allele duplication X-linked acrogigantism due to Xq26 microduplication [RCV000415471] ChrX:135596446..136254970 [GRCh37]
ChrX:Xq26.3
likely pathogenic
Single allele duplication X-linked acrogigantism due to Xq26 microduplication [RCV000415472] ChrX:135549274..136126345 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.3(CD40LG):c.478del (p.Gln160fs) deletion not provided [RCV000414255] ChrX:136659107 [GRCh38]
ChrX:135741266 [GRCh37]
ChrX:Xq26.3
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000074.3(CD40LG):c.767T>C (p.Phe256Ser) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001378166]|not provided [RCV000423996] ChrX:136659396 [GRCh38]
ChrX:135741555 [GRCh37]
ChrX:Xq26.3
likely pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_000074.3(CD40LG):c.440C>A (p.Thr147Asn) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000823370]|not provided [RCV000441734] ChrX:136659069 [GRCh38]
ChrX:135741228 [GRCh37]
ChrX:Xq26.3
likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000074.3(CD40LG):c.464T>A (p.Leu155Gln) single nucleotide variant not provided [RCV000480761] ChrX:136659093 [GRCh38]
ChrX:135741252 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.3(CD40LG):c.107T>A (p.Met36Lys) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001368065]|not provided [RCV000480912] ChrX:136648355 [GRCh38]
ChrX:135730514 [GRCh37]
ChrX:Xq26.3
likely pathogenic|uncertain significance
NM_000074.3(CD40LG):c.368C>T (p.Ala123Val) single nucleotide variant not provided [RCV000481348] ChrX:136656377 [GRCh38]
ChrX:135738536 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.409+3A>T single nucleotide variant not provided [RCV000486861] ChrX:136656421 [GRCh38]
ChrX:135738580 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000074.3(CD40LG):c.256G>A (p.Glu86Lys) single nucleotide variant not specified [RCV000508287] ChrX:136650365 [GRCh38]
ChrX:135732524 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic|uncertain significance
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
NM_000074.2(CD40LG):c.-189A>C single nucleotide variant not specified [RCV000506423] ChrX:136648060 [GRCh38]
ChrX:135730219 [GRCh37]
ChrX:Xq26.3
likely benign
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000074.3(CD40LG):c.542G>C (p.Arg181Pro) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000636651]|not specified [RCV000506850] ChrX:136659171 [GRCh38]
ChrX:135741330 [GRCh37]
ChrX:Xq26.3
benign|uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000074.2(CD40LG):c.-191A>C single nucleotide variant Hyper-IgM syndrome type 1 [RCV001504505]|not specified [RCV000507290] ChrX:136648058 [GRCh38]
ChrX:135730217 [GRCh37]
ChrX:Xq26.3
benign|likely benign
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000074.3(CD40LG):c.559del (p.Ala187fs) deletion Inborn genetic diseases [RCV000622392] ChrX:136659188 [GRCh38]
ChrX:135741347 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
NM_000074.3(CD40LG):c.410-13T>C single nucleotide variant Hyper-IgM syndrome type 1 [RCV000603610]|not provided [RCV001619808] ChrX:136659026 [GRCh38]
ChrX:135741185 [GRCh37]
ChrX:Xq26.3
benign
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NC_000023.11:g.(?_136650246)_(136654450_?)del deletion Hyper-IgM syndrome type 1 [RCV000636652] ChrX:136650246..136654450 [GRCh38]
ChrX:135732405..135736609 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.3(CD40LG):c.761C>A (p.Thr254Lys) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000636648] ChrX:136659390 [GRCh38]
ChrX:135741549 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.3(CD40LG):c.542G>A (p.Arg181Gln) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000636649] ChrX:136659171 [GRCh38]
ChrX:135741330 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.81A>G (p.Leu27=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000636650] ChrX:136648329 [GRCh38]
ChrX:135730488 [GRCh37]
ChrX:Xq26.3
benign
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 copy number loss not provided [RCV000684387] ChrX:126759247..135790885 [GRCh37]
ChrX:Xq25-26.3
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_000074.3(CD40LG):c.773T>C (p.Leu258Ser) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000690645] ChrX:136659402 [GRCh38]
ChrX:135741561 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.400ACA[1] (p.Thr135del) microsatellite Hyper-IgM syndrome type 1 [RCV000693514] ChrX:136656408..136656410 [GRCh38]
ChrX:135738567..135738569 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.322_325del (p.Glu108fs) microsatellite Hyper-IgM syndrome type 1 [RCV000689441] ChrX:136654400..136654403 [GRCh38]
ChrX:135736559..135736562 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.3(CD40LG):c.304_314del (p.Lys102fs) deletion Hyper-IgM syndrome type 1 [RCV000685846] ChrX:136654386..136654396 [GRCh38]
ChrX:135736545..135736555 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_000074.3(CD40LG):c.289-327T>C single nucleotide variant not provided [RCV001707311] ChrX:136654046 [GRCh38]
ChrX:135736205 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.686T>C (p.Phe229Ser) single nucleotide variant not provided [RCV000762673] ChrX:136659315 [GRCh38]
ChrX:135741474 [GRCh37]
ChrX:Xq26.3
likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000074.3(CD40LG):c.32G>A (p.Arg11Gln) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000923382] ChrX:136648280 [GRCh38]
ChrX:135730439 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.114G>A (p.Gly38=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001512372]|not provided [RCV000926209] ChrX:136648362 [GRCh38]
ChrX:135730521 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.386del (p.Glu129fs) deletion Hyper-IgM syndrome type 1 [RCV001049523] ChrX:136656395 [GRCh38]
ChrX:135738554 [GRCh37]
ChrX:Xq26.3
pathogenic
NC_000023.11:g.(?_136648058)_(136654450_?)del deletion Hyper-IgM syndrome type 1 [RCV001032173] ChrX:135730217..135736609 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.401del (p.Thr134fs) deletion Hyper-IgM syndrome type 1 [RCV001070147] ChrX:136656410 [GRCh38]
ChrX:135738569 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.429A>C (p.Lys143Asn) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001314969]|not specified [RCV000781201] ChrX:136659058 [GRCh38]
ChrX:135741217 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.288+1G>A single nucleotide variant Hyper-IgM syndrome type 1 [RCV000781202] ChrX:136650398 [GRCh38]
ChrX:135732557 [GRCh37]
ChrX:Xq26.3
likely pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_000074.3(CD40LG):c.410-3_410-2del deletion Hyper-IgM syndrome type 1 [RCV000819948] ChrX:136659035..136659036 [GRCh38]
ChrX:135741194..135741195 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000074.3(CD40LG):c.232T>C (p.Ser78Pro) single nucleotide variant Hyper-IgM syndrome type 1 [RCV002068672]|not provided [RCV000929728] ChrX:136650341 [GRCh38]
ChrX:135732500 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.369G>A (p.Ala123=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000975356] ChrX:136656378 [GRCh38]
ChrX:135738537 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.6C>T (p.Ile2=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV002066170]|not provided [RCV000938491] ChrX:136648254 [GRCh38]
ChrX:135730413 [GRCh37]
ChrX:Xq26.3
benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000074.3(CD40LG):c.632C>A (p.Thr211Asn) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000781200] ChrX:136659261 [GRCh38]
ChrX:135741420 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NC_000023.11:g.(?_136654353)_(136654450_?)del deletion Hyper-IgM syndrome type 1 [RCV000792783] ChrX:136654353..136654450 [GRCh38]
ChrX:135736512..135736609 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.661C>T (p.Gln221Ter) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000818235] ChrX:136659290 [GRCh38]
ChrX:135741449 [GRCh37]
ChrX:Xq26.3
pathogenic|likely pathogenic
NM_000074.3(CD40LG):c.7G>A (p.Glu3Lys) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000816763] ChrX:136648255 [GRCh38]
ChrX:135730414 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.505TAT[1] (p.Tyr170del) microsatellite Hyper-IgM syndrome type 1 [RCV000813133] ChrX:136659134..136659136 [GRCh38]
ChrX:135741293..135741295 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000803202] ChrX:136656382 [GRCh38]
ChrX:135738541 [GRCh37]
ChrX:Xq26.3
likely pathogenic|uncertain significance
NC_000023.11:g.(?_136648058)_(136659435_?)del deletion Hyper-IgM syndrome type 1 [RCV000817284] ChrX:136648058..136659435 [GRCh38]
ChrX:135730217..135741594 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.676G>A (p.Gly226Arg) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001869202]|not provided [RCV000788160] ChrX:136659305 [GRCh38]
ChrX:135741464 [GRCh37]
ChrX:Xq26.3
likely pathogenic|uncertain significance
NM_000074.3(CD40LG):c.520C>T (p.Gln174Ter) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000805406] ChrX:136659149 [GRCh38]
ChrX:135741308 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.3(CD40LG):c.359del (p.Pro120fs) deletion Hyper-IgM syndrome type 1 [RCV001030051] ChrX:136656367 [GRCh38]
ChrX:135738526 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.208_209del (p.Gln70fs) deletion not provided [RCV000788199] ChrX:136650316..136650317 [GRCh38]
ChrX:135732475..135732476 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.3(CD40LG):c.379A>G (p.Ile127Val) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000796869]|not provided [RCV000788794] ChrX:136656388 [GRCh38]
ChrX:135738547 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_000074.3(CD40LG):c.770G>A (p.Gly257Asp) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001237589] ChrX:136659399 [GRCh38]
ChrX:135741558 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_000074.3(CD40LG):c.375del (p.His125fs) deletion not provided [RCV001008932] ChrX:136656384 [GRCh38]
ChrX:135738543 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.3(CD40LG):c.288+188dup duplication not provided [RCV001679750] ChrX:136650573..136650574 [GRCh38]
ChrX:135732732..135732733 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.289-2A>C single nucleotide variant not provided [RCV001558353] ChrX:136654371 [GRCh38]
ChrX:135736530 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_000074.3(CD40LG):c.595G>A (p.Gly199Ser) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000908436] ChrX:136659224 [GRCh38]
ChrX:135741383 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.487G>A (p.Val163Ile) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000932769] ChrX:136659116 [GRCh38]
ChrX:135741275 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.550T>A (p.Ser184Thr) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000887806] ChrX:136659179 [GRCh38]
ChrX:135741338 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.601T>C (p.Phe201Leu) single nucleotide variant Hyper-IgM syndrome type 1 [RCV000921393] ChrX:136659230 [GRCh38]
ChrX:135741389 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.508dup (p.Tyr170fs) duplication Hyper-IgM syndrome type 1 [RCV001060070] ChrX:136659135..136659136 [GRCh38]
ChrX:135741294..135741295 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.556C>T (p.Gln186Ter) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001226556] ChrX:136659185 [GRCh38]
ChrX:135741344 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.474del (p.Lys159fs) deletion Hyper-IgM syndrome type 1 [RCV001066545] ChrX:136659101 [GRCh38]
ChrX:135741260 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.384T>C (p.Ser128=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001411350]|not provided [RCV000935661] ChrX:136656393 [GRCh38]
ChrX:135738552 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.157-277G>A single nucleotide variant not provided [RCV001689146] ChrX:136649989 [GRCh38]
ChrX:135732148 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.551C>T (p.Ser184Leu) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001045482] ChrX:136659180 [GRCh38]
ChrX:135741339 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.707C>T (p.Ser236Leu) single nucleotide variant not provided [RCV001092165] ChrX:136659336 [GRCh38]
ChrX:135741495 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.608G>C (p.Arg203Thr) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001070826] ChrX:136659237 [GRCh38]
ChrX:135741396 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.347-1G>A single nucleotide variant Hyperimmunoglobulin M syndrome [RCV001193392] ChrX:136656355 [GRCh38]
ChrX:135738514 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.578T>G (p.Leu193Arg) single nucleotide variant not provided [RCV001532716] ChrX:136659207 [GRCh38]
ChrX:135741366 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.26C>T (p.Ser9Phe) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001066297] ChrX:136648274 [GRCh38]
ChrX:135730433 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.694C>T (p.Gln232Ter) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001203125] ChrX:136659323 [GRCh38]
ChrX:135741482 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.98T>A (p.Ile33Asn) single nucleotide variant Common variable agammaglobulinemia [RCV001027559] ChrX:136648346 [GRCh38]
ChrX:135730505 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.562C>G (p.Pro188Ala) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001212471] ChrX:136659191 [GRCh38]
ChrX:135741350 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.133del (p.Tyr45fs) deletion Hyper-IgM syndrome type 1 [RCV001236186] ChrX:136648381 [GRCh38]
ChrX:135730540 [GRCh37]
ChrX:Xq26.3
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_000074.3(CD40LG):c.430G>A (p.Gly144Arg) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001211447] ChrX:136659059 [GRCh38]
ChrX:135741218 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.108G>A (p.Met36Ile) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001059437] ChrX:136648356 [GRCh38]
ChrX:135730515 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.514T>C (p.Tyr172His) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001060218] ChrX:136659143 [GRCh38]
ChrX:135741302 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.418T>C (p.Trp140Arg) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001253461] ChrX:136659047 [GRCh38]
ChrX:135741206 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.340C>T (p.Gln114Ter) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001264504] ChrX:136654424 [GRCh38]
ChrX:135736583 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.3(CD40LG):c.433T>A (p.Tyr145Asn) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001302763] ChrX:136659062 [GRCh38]
ChrX:135741221 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000074.3(CD40LG):c.49C>G (p.Leu17Val) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001324502] ChrX:136648297 [GRCh38]
ChrX:135730456 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000074.3(CD40LG):c.470del (p.Asn157fs) deletion Hyper-IgM syndrome type 1 [RCV001382557] ChrX:136659096 [GRCh38]
ChrX:135741255 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.346+5G>A single nucleotide variant Hyper-IgM syndrome type 1 [RCV001382556]|not provided [RCV002070254] ChrX:136654435 [GRCh38]
ChrX:135736594 [GRCh37]
ChrX:Xq26.3
pathogenic|likely pathogenic
NM_000074.3(CD40LG):c.122T>C (p.Leu41Pro) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001372922] ChrX:136648370 [GRCh38]
ChrX:135730529 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.73A>G (p.Met25Val) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001343909] ChrX:136648321 [GRCh38]
ChrX:135730480 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000074.3(CD40LG):c.288+6C>T single nucleotide variant Hyper-IgM syndrome type 1 [RCV001369649] ChrX:136650403 [GRCh38]
ChrX:135732562 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.346+1G>A single nucleotide variant Hyper-IgM syndrome type 1 [RCV001387581] ChrX:136654431 [GRCh38]
ChrX:135736590 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.314C>T (p.Thr105Met) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001514818] ChrX:136654398 [GRCh38]
ChrX:135736557 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.387G>A (p.Glu129=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001473940] ChrX:136656396 [GRCh38]
ChrX:135738555 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.39G>A (p.Ala13=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001521282] ChrX:136648287 [GRCh38]
ChrX:135730446 [GRCh37]
ChrX:Xq26.3
benign
NC_000023.10:g.(?_135738495)_(135741594_?)del deletion Hyper-IgM syndrome type 1 [RCV001378509] ChrX:135738495..135741594 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.3(CD40LG):c.156+17G>A single nucleotide variant Hyper-IgM syndrome type 1 [RCV001519876] ChrX:136648421 [GRCh38]
ChrX:135730580 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.204G>A (p.Thr68=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001510787] ChrX:136650313 [GRCh38]
ChrX:135732472 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.600A>G (p.Arg200=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001517222] ChrX:136659229 [GRCh38]
ChrX:135741388 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.674T>C (p.Leu225Ser) single nucleotide variant not provided [RCV001585183] ChrX:136659303 [GRCh38]
ChrX:135741462 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.3(CD40LG):c.346G>T (p.Gly116Cys) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001379720] ChrX:136654430 [GRCh38]
ChrX:135736589 [GRCh37]
ChrX:Xq26.3
likely pathogenic
NM_000074.3(CD40LG):c.30C>G (p.Pro10=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001515113] ChrX:136648278 [GRCh38]
ChrX:135730437 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.315G>A (p.Thr105=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001511250] ChrX:136654399 [GRCh38]
ChrX:135736558 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.15C>A (p.Tyr5Ter) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001384131] ChrX:136648263 [GRCh38]
ChrX:135730422 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.360T>C (p.Pro120=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001398600] ChrX:136656369 [GRCh38]
ChrX:135738528 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.158_161del microsatellite Hyper-IgM syndrome type 1 [RCV002251205] ChrX:136650262..136650265 [GRCh38]
ChrX:135732421..135732424 [GRCh37]
ChrX:Xq26.3
pathogenic
Single allele deletion not provided [RCV001786087] ChrX:136648047 [GRCh38]
ChrX:135730206 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.166G>T (p.Glu56Ter) single nucleotide variant Immunodeficiency, X-linked, with hyper-IgM [RCV001794937] ChrX:136650275 [GRCh38]
ChrX:135732434 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.107T>C (p.Met36Thr) single nucleotide variant Hyper-IgM syndrome type 1 [RCV002025811] ChrX:136648355 [GRCh38]
ChrX:135730514 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.208C>G (p.Gln70Glu) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001907736] ChrX:136650317 [GRCh38]
ChrX:135732476 [GRCh37]
ChrX:Xq26.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000074.3(CD40LG):c.290A>G (p.Asp97Gly) single nucleotide variant Hyper-IgM syndrome type 1 [RCV002039357] ChrX:136654374 [GRCh38]
ChrX:135736533 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.376G>T (p.Val126Phe) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001948946] ChrX:136656385 [GRCh38]
ChrX:135738544 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.156+2T>C single nucleotide variant Hyper-IgM syndrome type 1 [RCV001895461] ChrX:136648406 [GRCh38]
ChrX:135730565 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.203C>T (p.Thr68Met) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001890078] ChrX:136650312 [GRCh38]
ChrX:135732471 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.393C>G (p.Ser131Arg) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001871405] ChrX:136656402 [GRCh38]
ChrX:135738561 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.478C>T (p.Gln160Ter) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001955839] ChrX:136659107 [GRCh38]
ChrX:135741266 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.385G>T (p.Glu129Ter) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001935283] ChrX:136656394 [GRCh38]
ChrX:135738553 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.289-1G>A single nucleotide variant Hyper-IgM syndrome type 1 [RCV001954712] ChrX:136654372 [GRCh38]
ChrX:135736531 [GRCh37]
ChrX:Xq26.3
pathogenic
NC_000023.10:g.(?_135067662)_(136652229_?)del deletion Heterotaxy, visceral, 1, X-linked [RCV001956452]|Hyper-IgM syndrome type 1 [RCV001956451] ChrX:135067662..136652229 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.394A>C (p.Ser132Arg) single nucleotide variant Hyper-IgM syndrome type 1 [RCV002029844] ChrX:136656403 [GRCh38]
ChrX:135738562 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.409+1G>C single nucleotide variant Hyper-IgM syndrome type 1 [RCV001897038] ChrX:136656419 [GRCh38]
ChrX:135738578 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.347G>A (p.Gly116Asp) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001922752] ChrX:136656356 [GRCh38]
ChrX:135738515 [GRCh37]
ChrX:Xq26.3
uncertain significance
NM_000074.3(CD40LG):c.156+4A>G single nucleotide variant Hyper-IgM syndrome type 1 [RCV001904895] ChrX:136648408 [GRCh38]
ChrX:135730567 [GRCh37]
ChrX:Xq26.3
uncertain significance
NC_000023.10:g.(?_135730388)_(135737600_?)del deletion Hyper-IgM syndrome type 1 [RCV001939504] ChrX:135730388..135737600 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.598A>T (p.Arg200Ter) single nucleotide variant Hyper-IgM syndrome type 1 [RCV001925891] ChrX:136659227 [GRCh38]
ChrX:135741386 [GRCh37]
ChrX:Xq26.3
pathogenic
NM_000074.3(CD40LG):c.478C>G (p.Gln160Glu) single nucleotide variant Hyper-IgM syndrome type 1 [RCV002112543] ChrX:136659107 [GRCh38]
ChrX:135741266 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.327C>A (p.Asn109Lys) single nucleotide variant Hyper-IgM syndrome type 1 [RCV002149121] ChrX:136654411 [GRCh38]
ChrX:135736570 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.289-18C>A single nucleotide variant Hyper-IgM syndrome type 1 [RCV002111201] ChrX:136654355 [GRCh38]
ChrX:135736514 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.289-19G>T single nucleotide variant Hyper-IgM syndrome type 1 [RCV002146339] ChrX:136654354 [GRCh38]
ChrX:135736513 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.621A>G (p.Arg207=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV002087130] ChrX:136659250 [GRCh38]
ChrX:135741409 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.156+11C>A single nucleotide variant Hyper-IgM syndrome type 1 [RCV002147850] ChrX:136648415 [GRCh38]
ChrX:135730574 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.409+14C>T single nucleotide variant Hyper-IgM syndrome type 1 [RCV002080764] ChrX:136656432 [GRCh38]
ChrX:135738591 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.409+12A>G single nucleotide variant Hyper-IgM syndrome type 1 [RCV002113768] ChrX:136656430 [GRCh38]
ChrX:135738589 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.741G>C (p.Val247=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV002133395] ChrX:136659370 [GRCh38]
ChrX:135741529 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.289-14G>C single nucleotide variant Hyper-IgM syndrome type 1 [RCV002093773] ChrX:136654359 [GRCh38]
ChrX:135736518 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.288+20del deletion Hyper-IgM syndrome type 1 [RCV002175704] ChrX:136650416 [GRCh38]
ChrX:135732575 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.654C>T (p.Cys218=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV002156680] ChrX:136659283 [GRCh38]
ChrX:135741442 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.312G>A (p.Glu104=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV002100687] ChrX:136654396 [GRCh38]
ChrX:135736555 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.618C>T (p.Leu206=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV002155460] ChrX:136659247 [GRCh38]
ChrX:135741406 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.708G>A (p.Ser236=) single nucleotide variant Hyper-IgM syndrome type 1 [RCV002083992] ChrX:136659337 [GRCh38]
ChrX:135741496 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.289-18C>T single nucleotide variant Hyper-IgM syndrome type 1 [RCV002124088] ChrX:136654355 [GRCh38]
ChrX:135736514 [GRCh37]
ChrX:Xq26.3
likely benign
NM_000074.3(CD40LG):c.409+17C>T single nucleotide variant Hyper-IgM syndrome type 1 [RCV002155380] ChrX:136656435 [GRCh38]
ChrX:135738594 [GRCh37]
ChrX:Xq26.3
benign
NM_000074.3(CD40LG):c.687T>G (p.Phe229Leu) single nucleotide variant not provided [RCV002276236] ChrX:136659316 [GRCh38]
ChrX:135741475 [GRCh37]
ChrX:Xq26.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11935 AgrOrtholog
COSMIC CD40LG COSMIC
Ensembl Genes ENSG00000102245 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000359662.2 UniProtKB/TrEMBL
  ENSP00000359663 ENTREZGENE
  ENSP00000359663.2 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000370628.2 UniProtKB/TrEMBL
  ENST00000370629 ENTREZGENE
  ENST00000370629.7 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102245 GTEx
HGNC ID HGNC:11935 ENTREZGENE
Human Proteome Map CD40LG Human Proteome Map
InterPro CD40L UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNF_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNF_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tumour_necrosis_fac-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:959 UniProtKB/Swiss-Prot
NCBI Gene 959 ENTREZGENE
OMIM 300386 OMIM
  308230 OMIM
PANTHER PTHR11471:SF5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TNF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36626 PharmGKB
PIRSF TNF_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS CD40LIGAND UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TNF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TNF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49842 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C1L3E0_HUMAN UniProtKB/TrEMBL
  CD40L_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q3L8U2_HUMAN UniProtKB/TrEMBL
  Q45QX2_HUMAN UniProtKB/TrEMBL